A new variant of Hermansky-Pudlak syndrome due to mutations in a gene responsible for vesicle formation.
作者信息
Shotelersuk V, Dell'Angelica E C, Hartnell L, Bonifacino J S, Gahl W A
机构信息
Heritable Disorders Branch, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892-1830, USA.
出版信息
Am J Med. 2000 Apr 1;108(5):423-7. doi: 10.1016/s0002-9343(99)00436-2.
Abstract
摘要
Zotero 插件