A NOVEL MUTATION IN THE XPA GENE RESULTS IN TWO TRUNCATED PROTEIN VARIANTS AND LEADS TO A SEVERE XP/NEUROLOGICAL SYMPTOMS PHENOTYPE

ISSN
1791-7530
0250-7005
Date Issued
2015
Author(s)
Lehmann, J.
Schubert, S.
Schaefer, A.
Laspe, Petra
Gratchev, Alexei