Genotype-phenotype correlation in vonHippel-Lindau disease: Identification of a mutation associated with VHL type 2A

被引：49

作者：

Chen, F

SLife, L

Kishida, T

Mulvihill, J

Tisherman, SE

Zbar, B

机构：

[1] NCI, FREDERICK CANC RES & DEV CTR, IMMUNOBIOL LAB, FREDERICK, MD 21702 USA

[2] SCI APPLICAT INT CORP, FREDERICK, MD 21702 USA

[3] UNIV PITTSBURGH, SCH MED, DEPT HUMAN GENET, PITTSBURGH, PA USA

来源：

JOURNAL OF MEDICAL GENETICS | 1996年 / 33卷 / 08期

关键词：

vonHippel-Lindau disease; genotype-phenotype correlation; VHL type 2A;

D O I：

10.1136/jmg.33.8.716

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

A family with von Hippel-Lindau disease (VHL) type 2A has been shown to have a T to C missense mutation at nucleotide 547 of the VHL gene. This gives further support for the proposal to associate the 547 T to C mutation with phenotype VHL 2A.

引用

页码：716 / 717

页数：2

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