冯·希佩尔-林道病的基因型-表型相关性：鉴定与2A型VHL相关的突变
Genotype-phenotype correlation in von Hippel-Lindau disease: identification of a mutation associated with VHL type 2A.
作者信息
Chen F, Slife L, Kishida T, Mulvihill J, Tisherman S E, Zbar B
机构信息
Science Applications International Corp, Frederick, MD 21702, USA.
出版信息
J Med Genet. 1996 Aug;33(8):716-7. doi: 10.1136/jmg.33.8.716.
Abstract
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.
摘要
一个患有2A型希佩尔-林道病（VHL）的家族已被证实，其VHL基因第547位核苷酸存在从T到C的错义突变。这进一步支持了将547位T到C突变与VHL 2A表型相关联的提议。
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