Segregation of the N301T mutation in the family of the index patient with mevalonate kinase deficiency.
作者信息
Goebel-Schreiner B, Schreiner R, Hoffmann G F, Gibson K M
机构信息
Metabolic Disease Center, Baylor University Medical Center, Dallas, Texas, USA.
出版信息
J Inherit Metab Dis. 1995;18(2):197-200. doi: 10.1007/BF00711765.
PMID:7564245
Abstract
摘要
Zotero 插件