A missense mutation (S63L) in alpha-L-fucosidase is responsible for fucosidosis in an Italian patient.
作者信息
Seo H C, Yang M, Tonlorenzi R, Willems P J, Kim A H, Filocamo M, Gatti R, DiCioccio R A, O'Brien J S
机构信息
Department of Neurosciences, University of California at San Diego, La Jolla 92093-0634.
出版信息
Hum Mol Genet. 1994 Nov;3(11):2065-6.
PMID:7874128
Abstract
摘要
Zotero 插件