A nonsense mutation (R220X) in the alpha-galactosidase A gene detected in a female carrier of Fabry disease.

作者信息

Meaney C, Blanch L C, Morris C P

机构信息

Department of Chemical Pathology, Women's and Children's Hospital, North Adelaide, Australia.

出版信息

Hum Mol Genet. 1994 Jun;3(6):1019-20. doi: 10.1093/hmg/3.6.1019.

DOI:10.1093/hmg/3.6.1019

PMID:7951217

Abstract

摘要

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