Two novel mutations (L32P) and (G85N) among five different missense mutations in six Danish families with Fabry's disease.
作者信息
Madsen K M, Hasholt L, Sørensen S A, Fermér M L, Dahl N
机构信息
Department of Medical Biochemistry and Genetics, University of Copenhagen, Denmark.
出版信息
Hum Mutat. 1995;5(3):277-8. doi: 10.1002/humu.1380050316.
PMID:7599642
Abstract
摘要
Zotero 插件