Association of NPC1 variant p.P237S with a pathogenic splice variant in two Niemann-Pick disease type C1 patients.
作者信息
Salman Alexander, Cougnoux Antony, Farhat Nicole, Wassif Christopher A, Porter Forbes D
机构信息
Division of Translational Medicine, Eunice Kennedy Shriver National Institute of Child Health and Human Development, Bethesda, Maryland.
出版信息
Am J Med Genet A. 2017 Apr;173(4):1038-1040. doi: 10.1002/ajmg.a.38104.
PMID:28328115
Abstract
摘要
Zotero 插件