Molecular basis of choroideremia (CHM): Mutations involving the Rab escort protein-1 (REP-1) gene

被引：4
|
作者：
vandenHurk, JAJM
Schwartz, M
vanBokhoven, H
vandePol, TJR
Bogerd, L
Pinckers, AJLG
BleekerWagemakers, EM
Pawlowitzki, IH
Ruther, K
Ropers, HH
Cremers, FPM
机构：
[1] RIGSHOSP,DEPT CLIN GENET,DK-2100 COPENHAGEN,DENMARK
[2] UNIV NIJMEGEN HOSP,DEPT OPHTHALMOL,NL-6500 HB NIJMEGEN,NETHERLANDS
[3] IOI,DEPT OPHTHALMOGENET,AMSTERDAM,NETHERLANDS
[4] UNIV MUNSTER,INST HUMAN GENET,D-4400 MUNSTER,GERMANY
[5] UNIV TUBINGEN,AUGENKLIN,D-7400 TUBINGEN,GERMANY
来源：
HUMAN MUTATION | 1997年 / 9卷 / 02期
关键词：
choroideremia (CHM); mutations; rab escort protein-1 (REP-1);
D O I：
10.1002/(SICI)1098-1004(1997)9:2<110::AID-HUMU2>3.3.CO;2-9
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
Choroideremia (CHM) is an X-linked recessive eye disease that results from mutations involving the Rah escort protein-1 (REP-I) gene. In 18 patients deletions of different sizes have been found, Two females suffering from CHM were reported to have translocations that disrupt the REP I gene. In 22 patients, small mutations have been identified. Interestingly, these are all nonsense, frameshift or splice-site mutations; with one possible exception, missense mutations have not been found. This comprises all the known mutations in the disease. (C) 1997 Wiley-Liss, Inc.
引用
收藏
页码：110 / 117
页数：8
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