A Novel α-Galactosidase A Splicing Mutation Predisposes to Fabry Disease

A Novel α-Galactosidase A Splicing Mutation Predisposes to Fabry Disease

Fabry disease (FD) is a rare X-linked α-galactosidase A (GLA) deficiency, resulting in progressive lysosomal accumulation of globotriaosylceramide (Gb3) in a variety of cell types. Here, we report a novel splicing mutation (c.801 + 1G > A) that results in alternative splicing in GLA of a FD p...

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Bibliographic Details
Main Authors: Ping Li, Lijuan Zhang, Na Zhao, Qiuhong Xiong, Yong-An Zhou, Changxin Wu, Han Xiao
Format: Article
Language:English
Published: Frontiers Media S.A. 2019-02-01
Series:Frontiers in Genetics
Subjects:
Fabry disease
GLA
splicing mutation
c.801 + 1G > A
novel mutation
Online Access:https://www.frontiersin.org/article/10.3389/fgene.2019.00060/full

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https://www.frontiersin.org/article/10.3389/fgene.2019.00060/full

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