Genotype-phenotype correlation in vonHippel-Lindau disease: Identification of a mutation associated with VHL type 2A
Genotype-phenotype correlation in vonHippel-Lindau disease: Identification of a mutation associated with VHL type 2A
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DOI：
10.1136/jmg.33.8.716
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发表时间：
1996-08-01
影响因子：
4
通讯作者：
Zbar, B
中科院分区：
文献类型：
--
作者：
Chen, F;SLife, L;Zbar, B
一个2A型冯·希佩尔-林道病（VHL）家族在VHL基因的核苷酸547处有T到C错义突变。这进一步支持了将547 T to C突变与表型VHL 2A相关联的建议。
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.