Functional evaluation of a novel GLA causative mutation in Fabry disease

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 molecular diagn...

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Detalles Bibliográficos
Autores principales: Li, Ping, Zhang, Lijuan, Xiong, Qiuhong, Wang, Zhe, Cui, Xiaodong, Zhou, Yong‐An, Wang, Yuxian, Xiao, Han, Wu, Changxin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2019
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6732343/
https://www.ncbi.nlm.nih.gov/pubmed/31321922
http://dx.doi.org/10.1002/mgg3.864

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6732343/
https://www.ncbi.nlm.nih.gov/pubmed/31321922
http://dx.doi.org/10.1002/mgg3.864

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