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

页码：110 / 117

页数：8

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