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 patie...

Descripción completa

Detalles Bibliográficos
Autores principales: Li, Ping, Zhang, Lijuan, Zhao, Na, Xiong, Qiuhong, Zhou, Yong-An, Wu, Changxin, Xiao, Han
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2019
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6396734/
https://www.ncbi.nlm.nih.gov/pubmed/30853972
http://dx.doi.org/10.3389/fgene.2019.00060

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6396734/
https://www.ncbi.nlm.nih.gov/pubmed/30853972
http://dx.doi.org/10.3389/fgene.2019.00060

Ejemplares similares