A Novel Functional Missense Mutation p.T219A in Type 1 Gaucher′s Disease

A Novel Functional Missense Mutation p.T219A in Type 1 Gaucher′s Disease

Background: Gaucher's disease (GD) is an autosomal recessive disorder caused by a deficiency of acid β-glucosidase (glucocerebrosidase [GBA]) that results in the accumulation of glucocerebroside within macrophages. Many mutations have been reported to be associated with this disorder. This stud...

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Bibliographic Details
Main Authors: Lin-Yu Liu, Fei Liu, Si-Chen Du, Sha-Yi Jiang, Hui-Jun Wang, Jin Zhang, Wei Wang, Duan Ma
Format: Article
Language:English
Published: Wolters Kluwer 2016-01-01
Series:Chinese Medical Journal
Subjects:
Gaucher's Disease; GCase; Genetics; Novel Missense Mutation
Online Access:http://www.cmj.org/article.asp?issn=0366-6999;year=2016;volume=129;issue=9;spage=1072;epage=1077;aulast=Liu

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http://www.cmj.org/article.asp?issn=0366-6999;year=2016;volume=129;issue=9;spage=1072;epage=1077;aulast=Liu

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