A fucosidosis patient with relative longevity and a missense mutation in exon 7 of the alpha-fucosidase gene.
作者信息
Fleming C J, Sinclair D U, White E J, Winchester B, Whiteford M L, Connor J M
机构信息
Department of Dermatology, Glasgow Royal Infirmary, UK.
出版信息
J Inherit Metab Dis. 1998 Aug;21(6):688-9. doi: 10.1023/a:1005405222252.
PMID:9762612
Abstract
摘要
Zotero 插件