A Missense Mutation of the α-Galactosidase A Gene in a Chinese Family of Fabry Disease with Renal Failure

A Missense Mutation of the α-Galactosidase A Gene in a Chinese Family of Fabry Disease with Renal Failure

Background: Fabry disease (FD) is a rare disease due to an X-linked recessive inborn error of glycosphingolipid metabolism resulting from the mutations of the α-galactosidase A (α-gal A) gene. FD is rare in Chinese and the data on clinic and genetic features of FD is still limited. Methods: In this...

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Bibliographic Details
Main Authors: Chunli Wang, Yang Wang, Feng Zhu, Jing Xiong
Format: Article
Language:English
Published: Karger Publishers 2013-06-01
Series:Kidney & Blood Pressure Research
Subjects:
Fabry disease
Missense mutation
Renal failure
Online Access:http://www.karger.com/Article/FullText/350147

Internet

http://www.karger.com/Article/FullText/350147

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