Two related Chinese Fabry disease patients with a p.N215S pathological variant who presented with nephropathy

Two related Chinese Fabry disease patients with a p.N215S pathological variant who presented with nephropathy

Fabry disease is an X-linked lysosomal storage disease resulting from a mutation in the GLA gene that encodes α-galactosidase A. The p.N215S (c.644A > G [p.Asn215Ser]) genotype is the most common later-onset variant reported in individuals of European or North American descent. It is usually refe...

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Bibliographic Details
Main Authors: Bun Sheng, Ka Fai Yim, Lin Kiu Lau, Han Chih Hencher Lee, Ka Shun Samuel Fung, Ka Fai Johnny Ma, Wai Leung Chak
Format: Article
Language:English
Published: Elsevier 2020-09-01
Series:Molecular Genetics and Metabolism Reports
Subjects:
Fabry disease
Fabry nephropathy
Later-onset variant
Variant Fabry
Non-classic phenotype Fabry
Chinese
Online Access:http://www.sciencedirect.com/science/article/pii/S2214426920300422

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