A novel missense mutation in the type II 3 beta-hydroxysteroid dehydrogenase gene in a family with classical salt-wasting congenital adrenal hyperplasia due to 3 beta-hydroxysteroid dehydrogenase deficiency.
作者信息
Katsumata N, Tanae A, Yasunaga T, Horikawa R, Tanaka T, Hibi I
机构信息
Department of Endocrinology and Metabolism, National Children's Medical Research Center, National Children's Hospital, Tokyo, Japan.
出版信息
Hum Mol Genet. 1995 Apr;4(4):745-6. doi: 10.1093/hmg/4.4.745.
PMID:7633426
Abstract
摘要
Zotero 插件