Congenital hypertrophy of the retinal pigment epithelium and APC mutations in two Chinese families with familial adenomatous polyposis

被引：0
|
作者：
C P Pang
Joyce W Y Keung
Nelson L S Tang
Dorothy S P Fan
Joseph W Y Lau
Dennis S C Lam
机构：
[1] Chinese University of Hong Kong,Department of Ophthalmology & Visual Sciences
[2] Shatin,Department of Chemical Pathology
[3] Chinese University of Hong Kong,Department of Surgery
[4] Shatin,undefined
[5] Chinese University of Hong Kong,undefined
[6] Shatin,undefined
来源：
Eye | 2000年 / 14卷
关键词：
APC mutations; Chinese FAP; CHRPE;
D O I：
暂无
中图分类号：
学科分类号：
摘要：
Purpose Congenital hypertrophy of the retinal pigment epithelium (CHRPE) exists almost exclusively among familial adenomatous polyposis (FAP) patients with adenomatous polyposis coli (APC) mutations between codon 413 in exon 9 and codon 1387 in exon 15. We investigated the locality of APC mutations in relationship to the occurrence of CHRPE in two Chinese families with FAP.
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页码：18 / 22
页数：4
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