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A novel mutation in the XPA gene results in two truncated protein variants and leads to a severe XP/neurological symptoms phenotype
ISSN
1610-0387
1610-0379
Date Issued
2014
Author(s)
Lehmann, J.
Schubert, S.
Schaefer, A.
Laspe, Petra
Haenssle, Holger Andreas
Gratchev, Alexei