Open AccessMolecular basis of choroideremia (CHM): Mutations involving the rab escort protein‐1 (REP1) gene
Author(s) -
José A. J. M. van den Hurk,
Marianne Schwartz,
Hans van Bokhoven,
T.J.R. van de Pol,
Liesbeth Bogerd,
A. Pinckers,
E. M. BleekerWagemakers,
I. H. Pawlowitzki,
Klaus Rüther,
HansHilger Ropers,
Frans P.M. Cremers
Publication year - 1997
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/(sici)1098-1004(1997)9:2<110::aid-humu2>3.3.co;2-9
Subject(s) - choroideremia , biology , genetics , frameshift mutation , missense mutation , gene , nonsense mutation , mutation , hum , nonsense , rab , art , performance art , art history , gtpase