Ahsen, Nicolas von

[["dc.bibliographiccitation.firstpage","237"],["dc.bibliographiccitation.issue","4"],["dc.bibliographiccitation.journal","LaboratoriumsMedizin"],["dc.bibliographiccitation.lastpage","238"],["dc.bibliographiccitation.volume","34"],["dc.contributor.author","Oellerich, Michael"],["dc.contributor.author","von Ahsen, Nicolas"],["dc.date.accessioned","2018-11-07T08:41:53Z"],["dc.date.available","2018-11-07T08:41:53Z"],["dc.date.issued","2010"],["dc.identifier.doi","10.1515/JLM.2010.036"],["dc.identifier.isi","000288433500010"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/19566"],["dc.notes.status","zu prüfen"],["dc.notes.submitter","Najko"],["dc.publisher","Walter De Gruyter & Co"],["dc.relation.issn","0342-3026"],["dc.title","Prof. Dr. rer. nat. Victor William Armstrong Obituary"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.status","published"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.firstpage","293"],["dc.bibliographiccitation.issue","5"],["dc.bibliographiccitation.journal","LaboratoriumsMedizin"],["dc.bibliographiccitation.lastpage","302"],["dc.bibliographiccitation.volume","33"],["dc.contributor.author","von Ahsen, Nicolas"],["dc.contributor.author","Binder, Claudia"],["dc.contributor.author","Brockmoeller, Juergen"],["dc.contributor.author","Oellerich, Michael"],["dc.date.accessioned","2018-11-07T11:25:10Z"],["dc.date.available","2018-11-07T11:25:10Z"],["dc.date.issued","2009"],["dc.description.abstract","The selective estrogen receptor modulator tamoxifen is approved for treatment of hormone receptor-positive breast cancer in pre- and postmenopausal patients. The main active metabolite of tamoxifen is endoxifen, which has high affinity towards the receptor and reaches high plasma concentrations. Endoxifen results from cytochrome P450 enzyme CYP2D6 action. CYP2D6 is subject to genetic polymorphism, with a prevalence of enzyme deficiency of approximately 7% in most European populations. Enzyme deficiency is reliably predicted by genotyping of known CYP2D6 deficiency alleles. Poor metabolizers (homozygote carriers of deficiency alleles) exhibit lower endoxifen plasma concentrations. Retrospective analyses of tamoxifen study data according to CYP2D6 genotypes reveal a poorer oncological outcome for subjects with deficiency alleles in most studies (level 3 evidence). Data from randomized controlled studies (level 1 evidence) on the use of CYP2D6 typing for tamoxifen therapy are lacking. However, CYP2D6 genotyping before initiating tamoxifen therapy and avoidance of tamoxifen in postmenopausal women with a CYP2D6 enzyme deficiency seem warranted. Prescribing information does not list CYP2D6 status as a contraindication for tamoxifen. Pharmacological supression of hot flashes by comedication with CYP2D6 inhibitors (e.g., fluoxetine, paroxetine) must be avoided because such patients will become functional Poor metabolizers with lower endoxifen levels."],["dc.identifier.doi","10.1515/JLM.2009.048"],["dc.identifier.isi","000270609700007"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/56569"],["dc.notes.status","zu prüfen"],["dc.notes.submitter","Najko"],["dc.publisher","Walter De Gruyter & Co"],["dc.relation.issn","0342-3026"],["dc.title","CYP2D6 and tamoxifen: pharmacogenetic reinvention of an established drug?"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.status","published"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.firstpage","559"],["dc.bibliographiccitation.issue","11"],["dc.bibliographiccitation.journal","Onkologie"],["dc.bibliographiccitation.lastpage","563"],["dc.bibliographiccitation.volume","30"],["dc.contributor.author","Petrova, Darinka Todorova"],["dc.contributor.author","Yaramov, Nikolay"],["dc.contributor.author","Toshev, Svetoslav"],["dc.contributor.author","Nedeva, Petya"],["dc.contributor.author","Maslyankov, Svilen"],["dc.contributor.author","von Ahsen, Nicolas"],["dc.contributor.author","Oellerich, Michael"],["dc.contributor.author","Toncheva, Draga"],["dc.date.accessioned","2018-11-07T11:07:17Z"],["dc.date.available","2018-11-07T11:07:17Z"],["dc.date.issued","2007"],["dc.description.abstract","Background: The purpose of the study was to genotype four polymorphisms in CYP3A5 (CYP3A5 2, CYP3A5 3, CYP3A5 3B, and CYP3A5 6) for a possible association between individual genetic variations and susceptibility to colorectal cancer. Another point of interest was to conduct a comprehensive analysis in tumor and normal intestine tissue from the same patient, searching for somatic hotspots. Material and Methods: In our study, 146 Bulgarian patients with sporadic colorectal cancer and 160 healthy volunteers were enrolled. CYP3A5 polymorphisms were identified using rapid-cycle real-time amplification with allele-specific probes and subsequent melting curve analysis on a LightCycler (TM). Results: The allele frequencies were comparable in both groups: frequency of CYP3A5 2 = 0.3% in patients vs. 0.6% in controls; frequency of CYP3A5 3 = 90.8% in patients vs. 93.1% in controls; in both groups no CYP3A5 3B and CYP3A5 6 variants were detected (p > 0.05). No difference was observed between genotype frequencies in tumor and surrounding normal tissues of 80 patients. Conclusions: The CYP3A5 variants are unlikely to have an important functional significance in patients with colorectal cancer. The studied CYP3A5 loci do not seem to be hotspots for somatic mutation. DNA from archived tumor tissues is a valid alternative to the use of leukocyte DNA for genotyping of these polymorphisms."],["dc.identifier.doi","10.1159/000108285"],["dc.identifier.isi","000250655900004"],["dc.identifier.pmid","17992026"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/52522"],["dc.notes.status","zu prüfen"],["dc.notes.submitter","Najko"],["dc.publisher","Karger"],["dc.relation.issn","0378-584X"],["dc.title","Genotyping of CYP3A5 polymorphisms among Bulgarian patients with sporadic colorectal cancer and controls"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.status","published"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.issue","2"],["dc.bibliographiccitation.journal","ChemInform"],["dc.bibliographiccitation.volume","36"],["dc.contributor.author","Armstrong, Victor W."],["dc.contributor.author","Shipkova, Maria"],["dc.contributor.author","von Ahsen, Nicolas"],["dc.contributor.author","Oellerich, Michael"],["dc.date.accessioned","2021-12-08T12:29:19Z"],["dc.date.available","2021-12-08T12:29:19Z"],["dc.date.issued","2005"],["dc.identifier.doi","10.1002/chin.200502276"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/96028"],["dc.language.iso","en"],["dc.notes.intern","DOI-Import GROB-476"],["dc.relation.eissn","1522-2667"],["dc.relation.issn","0931-7597"],["dc.rights.uri","http://doi.wiley.com/10.1002/tdm_license_1.1"],["dc.title","Analytic Aspects of Monitoring Therapy with Thiopurine Medications"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.firstpage","1473"],["dc.bibliographiccitation.issue","9"],["dc.bibliographiccitation.journal","Clinical Chemistry and Laboratory Medicine (CCLM)"],["dc.bibliographiccitation.lastpage","1477"],["dc.bibliographiccitation.volume","49"],["dc.contributor.author","Brandhorst, Gunnar"],["dc.contributor.author","Engelmayer, Jutta"],["dc.contributor.author","Goetze, Sandra"],["dc.contributor.author","Oellerich, Michael"],["dc.contributor.author","von Ahsen, Nicolas"],["dc.date.accessioned","2018-11-07T08:52:33Z"],["dc.date.available","2018-11-07T08:52:33Z"],["dc.date.issued","2011"],["dc.description.abstract","Background: In this study the pre-analytical effects of sample storage on frequently used routine clinical chemistry assays were evaluated by comparing four different lithium heparin plasma separation tubes to a reference collection procedure. Methods: Blood was collected from 20 healthy volunteers using plasma separation tubes from four different manufacturers together with manually separated plasma as reference. In total, 15 clinical chemistry parameters were determined at 0 h, 24 h, and 72 h. Samples were stored at 4 degrees C. Statistical differences were evaluated using a generalized estimating equation regression model. Results: Significant differences could be demonstrated for almost every parameter when comparing the separation tubes to the reference collection system. The estimated maximum allowable storage time in the primary tube was considerably reduced using separation tubes, e. g., for glucose the maximum storage time was reduced from > 72 h to 7-15 h, and for potassium from 60 h to 10-13 h, respectively. Conclusions: These data indicate that sample storage in the primary tube using plasma separation tubes is associated with clinically relevant changes for certain parameters. Therefore, storing samples for retesting should be avoided when using plasma separation tubes, in particular for parameters susceptible to interference by erythrocyte or platelet contamination."],["dc.identifier.doi","10.1515/CCLM.2011.606"],["dc.identifier.isi","000294841100013"],["dc.identifier.pmid","21605014"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/22197"],["dc.notes.status","zu prüfen"],["dc.notes.submitter","Najko"],["dc.publisher","Walter De Gruyter & Co"],["dc.relation.issn","1434-6621"],["dc.title","Pre-analytical effects of different lithium heparin plasma separation tubes in the routine clinical chemistry laboratory"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.status","published"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.firstpage","310"],["dc.bibliographiccitation.issue","4"],["dc.bibliographiccitation.journal","International journal of molecular epidemiology and genetics"],["dc.bibliographiccitation.lastpage","9"],["dc.bibliographiccitation.volume","1"],["dc.contributor.author","von Ahsen, Nicolas"],["dc.contributor.author","Tzvetkov, Mladen"],["dc.contributor.author","Karunajeewa, Harin A."],["dc.contributor.author","Gomorrai, Servina"],["dc.contributor.author","Ura, Alice"],["dc.contributor.author","Brockmöller, Jürgen"],["dc.contributor.author","Davis, Timothy M. E."],["dc.contributor.author","Mueller, Ivo"],["dc.contributor.author","Ilett, Kenneth F."],["dc.contributor.author","Oellerich, Michael"],["dc.date.accessioned","2019-07-10T08:13:37Z"],["dc.date.available","2019-07-10T08:13:37Z"],["dc.date.issued","2010"],["dc.description.abstract","PURPOSE: A high frequency of previously unknown CYP2D6 alleles have been reported in Oceania populations. Genetic and functional properties of these alleles remain unknown. METHODS: We performed analyses of the genetic variability of CYP2D6 and CYP2C19 genes using AmpliChip genotyping in cohorts from two distinct Papua New Guinea (PNG) populations (Kunjingini, n=88; Alexishafen, n=84) focussing on the genetic characterisation of PNG-specific alleles by re-sequencing. RESULTS: Previously unknown CYP2D6 alleles have population frequencies of 24% (Kunjingini) and 12% (Alexishafen). An allele similar to CYP2D6 1, but carrying the 1661G>C substitution, was the second most frequent CYP2D6 allele (20% Kunjingini and 10% Alexishafen population frequency). Sequencing suggests the CYP2D6 1661G>C allele originated from a cross-over between CYP2D6 1 and 2 and thus is predicted to confer fully active CYP2D6 enzyme. Two additional predicted full activity alleles [1661G>C;4180G>C] and 31G>A were found in the Kunjingini cohort (frequencies 3 c/c and 1%, respectively) and a novel predicted reduced activity allele [100C>T;1039C>T] was found in the Alexishafen cohort (frequency 2%). A high frequency of ultra-rapid (15%) and notably low frequencies of intermediate and poor CYP2D6 metabolizers (<5%) and a high frequency of poor CYP2C19 metabolizers were observed in PNG. Both CYP2D6 and CYP2C19 showed heterozygote excess that may be explained by exogamy and recent introduction of alleles by migration that are yet to reach HWE in relatively isolated populations. CONCLUSION: The CYP2D6 1661 allele common in Oceania may be regarded as functionally equivalent to the full activity CYP2D6 1 allele."],["dc.identifier.fs","576822"],["dc.identifier.pmid","21532842"],["dc.identifier.purl","https://resolver.sub.uni-goettingen.de/purl?gs-1/6920"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/61291"],["dc.language.iso","en"],["dc.notes.intern","Merged from goescholar"],["dc.relation.issn","1948-1756"],["dc.relation.orgunit","Universitätsmedizin Göttingen"],["dc.rights","Goescholar"],["dc.rights.uri","https://goescholar.uni-goettingen.de/licenses"],["dc.subject.ddc","610"],["dc.title","CYP2D6 and CYP2C19 in Papua New Guinea: High frequency of previously uncharacterized CYP2D6 alleles and heterozygote excess."],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.version","published_version"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.firstpage","16"],["dc.bibliographiccitation.issue","1"],["dc.bibliographiccitation.journal","Therapeutic Drug Monitoring"],["dc.bibliographiccitation.lastpage","22"],["dc.bibliographiccitation.volume","30"],["dc.contributor.author","von Ahsen, Nicolas"],["dc.contributor.author","Oellerich, Michael"],["dc.contributor.author","WArmstrong, Victor"],["dc.date.accessioned","2018-11-07T11:18:59Z"],["dc.date.available","2018-11-07T11:18:59Z"],["dc.date.issued","2008"],["dc.description.abstract","Inosine triphosphatase (ITPA) cleaves phosphate residues from inosine triphosphate (ITP) and deoxy ITP (dITP), thereby recovering inosine monophosphate, which is a substrate for further purine nucleotide pathways. Deficient ITPA activity leads to intracellular accumulation of ITP/dITP and would, under thiopurine therapy, lead to accumulation of unusual thio-inosine metabolites (thio-ITP) with the potential for adverse metabolic effects. ITPA is a promising candidate for a more comprehensive understanding of thiopurine pharmacogenetics. We therefore studied the haplotype structure, haplotype-phenotype association, and promoter function of ITPA in a Western European population. ITPA haplotyping was performed based on haplotype tagging SNPs (selected from HapMap data) in healthy 130 controls. Haplotypes were reconstructed, and the haplotype-phenotype association was assessed by haplotype trend regression. A 1.5 kb upstream region and stepwise deletions thereof were tested for promoter activity in reporter gene assays in HcpG2 and CCRF-CEM cells. Transcription factor binding (Sp1, Sp3)to the proximal promoter region was studied by chromatin immunoprecipitation. Among haplotypes with a frequency greater than 0.01, we did not find any new low-activity haplotypes besides those carrying 94C>A or IVS2 + 21A>C variants. Two promoter SNPs had no influence on promoter activity. An approximately 200 bp sized GC-rich proximal promoter region was sufficient to fully drive reporter gene activity. Chromatin immunoprecipitation showed binding of Sp I and Sp3 transcription factors to this region. Only the two haplotypes carrying 94C>A or IVS2 + 21A>C were associated with reduced enzyme activity. The gene promoter is associated with a CpG island and driven by Sp-family transcription factors. There was no evidence for functional promoter SNPs, and it is suggested that only SNPs within the very proximal promoter region (approximately 200 bp) have the potential to be functionally significant."],["dc.identifier.isi","000252877900004"],["dc.identifier.pmid","18223458"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/55164"],["dc.notes.status","zu prüfen"],["dc.notes.submitter","Najko"],["dc.publisher","Lippincott Williams & Wilkins"],["dc.relation.issn","0163-4356"],["dc.title","Characterization of the inosine triphosphatase (ITPA) gene: Haplotype structure, haplotype-phenotype correlation and promoter function"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.status","published"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.firstpage","3325"],["dc.bibliographiccitation.issue","11"],["dc.bibliographiccitation.journal","World Journal of Gastroenterology"],["dc.bibliographiccitation.lastpage","3329"],["dc.bibliographiccitation.volume","21"],["dc.contributor.author","Brandhorst, Gunnar"],["dc.contributor.author","Petrova, Darinka Todorova"],["dc.contributor.author","Weigand, Sebastian"],["dc.contributor.author","Eberle, Christoph"],["dc.contributor.author","von Ahsen, Nicolas"],["dc.contributor.author","Schmitz, Jessica"],["dc.contributor.author","Schultze, Frank Christian"],["dc.contributor.author","Raddatz, Dirk"],["dc.contributor.author","Karaus, Michael"],["dc.contributor.author","Oellerich, Michael"],["dc.contributor.author","Walson, Philip D."],["dc.date.accessioned","2018-11-07T09:59:29Z"],["dc.date.available","2018-11-07T09:59:29Z"],["dc.date.issued","2015"],["dc.description.abstract","AIM: To compare the number of regulatory T-cells (Tregs) measured by flow cytometry with those obtained using a real-time quantitative PCR (qPCR) method in patients suffering from inflammatory bowel disease (IBD). METHODS: Tregs percentages obtained by both flow cytometry and qPCR methods in 35 adult IBD patients, 18 out of them with Crohn's disease (CD) and 17 with ulcerative colitis (UC) were compared to each other as well as to scores on two IBD activity questionnaires using the Harvey Bradshaw Index (HBI) for CD patients and the Simple Colitis Clinical Activity Index (SCCAI) for UC patients. The Treg percentages by flow cytometry were defined as CD4(+)CD25(high)CD127(low)FOXP3(+) cells in peripheral blood mononuclear cells, whereas the Treg percentages by qPCR method were determined as FOXP3 promoter demethylation in genomic DNA. RESULTS: We found an average of 1.56% +/- 0.78% Tregs by using flow cytometry, compared to 1.07% +/- 0.53% Tregs by using qPCR in adult IBD patients. There were no significant correlations between either the percentages of Tregs measured by flow cytometry or qPCR and the HBI or SCCAI questionnaire scores in CD or UC patients, respectively. In addition, there was no correlation between Treg percentages measured by qPCR and those measured by flow cytometry (r = -0.06, P = 0.73; Spearman Rho). These data suggest that, either Treg-related immune function or the clinical scores in these IBD patients did not accurately reflect actual disease activity. Until the cause(s) for these differences are more clearly defined, the results suggest caution in interpreting studies of Tregs in various inflammatory disorders. CONCLUSION: The two methods did not produce equivalent measures of the percentage of total Tregs in the IBD patients studied which is consistent with the conclusion that Tregs subtypes are not equally detected by these two assays."],["dc.description.sponsorship","Medical Faculty of the University of Goettingen, Germany"],["dc.identifier.doi","10.3748/wjg.v21.i11.3325"],["dc.identifier.isi","000351165100021"],["dc.identifier.pmid","25805940"],["dc.identifier.purl","https://resolver.sub.uni-goettingen.de/purl?gs-1/11750"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/37598"],["dc.notes.intern","Merged from goescholar"],["dc.notes.status","zu prüfen"],["dc.notes.submitter","Najko"],["dc.publisher","Baishideng Publishing Group Inc"],["dc.relation.issn","2219-2840"],["dc.relation.issn","1007-9327"],["dc.rights","CC BY-NC 4.0"],["dc.rights.uri","https://creativecommons.org/licenses/by-nc/4.0"],["dc.title","Lack of correlation between Treg quantification assays in inflammatory bowel disease patients"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.status","published"],["dc.type.version","published_version"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.firstpage","584"],["dc.bibliographiccitation.issue","5"],["dc.bibliographiccitation.journal","Therapeutic Drug Monitoring"],["dc.bibliographiccitation.lastpage","592"],["dc.bibliographiccitation.volume","34"],["dc.contributor.author","Misdaq, Misbah"],["dc.contributor.author","Andag, Reiner"],["dc.contributor.author","Oellerich, Michael"],["dc.contributor.author","Asif, Abdul R."],["dc.contributor.author","von Ahsen, Nicolas"],["dc.date.accessioned","2021-06-01T10:46:59Z"],["dc.date.available","2021-06-01T10:46:59Z"],["dc.date.issued","2012"],["dc.identifier.doi","10.1097/FTD.0b013e31826ec4b4"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/85440"],["dc.language.iso","en"],["dc.notes.intern","DOI-Import GROB-425"],["dc.relation.issn","0163-4356"],["dc.title","Establishment of Thiopurine S-Methyltransferase Gene Knockdown in Jurkat T-lymphocytes"],["dc.title.alternative","An In Vitro Model of TPMT Polymorphism"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.firstpage","6"],["dc.bibliographiccitation.issue","1"],["dc.bibliographiccitation.journal","Therapeutic Drug Monitoring"],["dc.bibliographiccitation.lastpage","10"],["dc.bibliographiccitation.volume","29"],["dc.contributor.author","Atanasova, Srebrena"],["dc.contributor.author","Shipkova, Maria"],["dc.contributor.author","Svinarov, Dobrin"],["dc.contributor.author","Mladenova, Antoaneta"],["dc.contributor.author","Genova, Mariana"],["dc.contributor.author","Wieland, Eberhard"],["dc.contributor.author","Oellerich, Michael"],["dc.contributor.author","von Ahsen, Nicolas"],["dc.date.accessioned","2018-11-07T11:05:37Z"],["dc.date.available","2018-11-07T11:05:37Z"],["dc.date.issued","2007"],["dc.description.abstract","Mutations in the inosine triphosphate pyrophosphohydrolase (ITPA) gene causing enzyme deficiency were shown to have pharmacogenetic implications in azathioprine-induced adverse drug reactions. The distribution of ITPA activity as well as the types and the frequencies of gene variants associated with a lower enzyme activity were determined in healthy volunteers from a Bulgarian population. The ITPA activity was measured in 185 erythrocyte samples by an established high-performance liquid chromatography procedure. All samples were genotyped for 94C > A, IVS2 + 21A > C, and IVS2 + 68T > C/G by real-time polymerase chain reaction with hybridization probes. The ITPA activity ranged from 7.5 to 587.8 mu moL IPM/(g Rb X h) with a median value of 162.9 mu mol IMP/(g Hb X h). The enzyme activity showed significant differences between females and males (P = 0.006) with 17% higher values in men than women. Mutant allele frequencies were 0.038 (94C > A) and 0.130 (IVS2 + 21A > C). Mutations at IVS2 + 68 were not identified. Using a cutoff at 75 mu moL IMP/(g Hb X h) phenotyping detected all heterozygous carriers of 94C > A, two compound heterozygotes, all IVS2 + 21A > C homozygotes and 12.5% of IVS2 + 21A > C heterozygous cases. A novel frameshift mutation 359_366dupTCAGCACC in exon 6 was found in a subject with reduced enzyme activity of 61.2 mu moL IMP/(g Hb X h). The interindividual variability in ITPA activity among the Bulgarian population resembles the distribution of enzyme activity in other whites, although the observed median activity was approximately 25% lower in the Bulgarians [163 vs 219 mu moL IMP/(g Hb X h)]. The most common mutant allele IVS2 + 21A > C showed a similar frequency like in other white populations, whereas the 94C > A mutation was less frequently observed compared with other whites. Heterozygosity for the novel gene variant 359_366dupTCAGCACC was associated with 30% enzyme activity of the wild-type median value. The role of this rare variant for the thiopurine intolerance is not explored. These data further extend the knowledge for ITPA heterogeneity in whites."],["dc.identifier.doi","10.1097/FTD.0b013e3180308554"],["dc.identifier.isi","000243954700002"],["dc.identifier.pmid","17304144"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/52111"],["dc.notes.status","zu prüfen"],["dc.notes.submitter","Najko"],["dc.publisher","Lippincott Williams & Wilkins"],["dc.relation.issn","0163-4356"],["dc.title","Analysis of ITPA phenotype-genotype correlation in the Bulgarian population revealed a novel gene variant in Exon 6"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.status","published"],["dspace.entity.type","Publication"]]