APC MUTATION ASSOCIATED WITH LATE-ONSET OF FAMILIAL ADENOMATOUS POLYPOSIS

被引：19

作者：

SMITHRAVIN, J

PACK, K

HODGSON, S

TAY, SKS

PHILLIPS, R

BODMER, W

机构：

[1] ST MARKS HOSP,POLYPOSIS GRP,LONDON EC1 2PS,ENGLAND

[2] IMPERIAL CANC RES FUND,CANC GENET LAB,LONDON WC2A 3PX,ENGLAND

来源：

JOURNAL OF MEDICAL GENETICS | 1994年 / 31卷 / 11期

关键词：

D O I：

10.1136/jmg.31.11.888

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Familial adenomatous polyposis is an autosomal dominantly inherited disorder. Mutation studies in the corresponding gene (APC) may provide information for predictive tests for persons at risk in affected families. We report here a new mutation in exon 6 (codon 233) of the APC gene and clinical data in a large family with late onset of the disease in most affected persons.

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收藏

页码：888 / 890

页数：3

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