Functional evaluation of a novel GLA causative mutation in Fabry disease

Functional evaluation of a novel GLA causative mutation in Fabry disease

Abstract Background Fabry disease (FD), a rare X‐linked α‐galactosidase A (GLA) deficiency, resulting in progressive lysosomal accumulation of globotriaosylceramide in a variety of cell types. More and more disease‐causing mutations in GLA have been identified in FD due to the advancement of molecul...

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Bibliographic Details
Main Authors: Ping Li, Lijuan Zhang, Qiuhong Xiong, Zhe Wang, Xiaodong Cui, Yong‐An Zhou, Yuxian Wang, Han Xiao, Changxin Wu
Format: Article
Language:English
Published: Wiley 2019-09-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
Fabry disease
missense variant
novel mutation
Online Access:https://doi.org/10.1002/mgg3.864

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