A novel point mutation (D380A) and a rare deletion (1255del55) in the glucocerebrosidase gene causing Gaucher's disease.
作者信息
Walley A J, Harris A
机构信息
Institute of Molecular Medicine, John Radcliffe Hospital, Oxford, UK.
出版信息
Hum Mol Genet. 1993 Oct;2(10):1737-8. doi: 10.1093/hmg/2.10.1737.
PMID:8268935
Abstract
摘要
Zotero 插件