Identification of a novel loss-of-function mutation of the GLA gene in a Chinese Han family with Fabry disease

BACKGROUND: Fabry disease is an X-linked recessive lysosomal disorder caused by deficient enzymatic activity of α-galactosidase A (α-Gal A). The insufficient enzymatic activity leads to excessive accumulation of glycosphingolipids, the substrates of the enzyme, in lysosomes in organs and tissues. Mu...

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Detalles Bibliográficos
Autores principales: Zhou, Chi, Huang, Jin, Cui, Guanglin, Zeng, Hesong, Wang, Dao Wen, Zhou, Qiang
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2018
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6307325/
https://www.ncbi.nlm.nih.gov/pubmed/30587147
http://dx.doi.org/10.1186/s12881-018-0734-2

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6307325/
https://www.ncbi.nlm.nih.gov/pubmed/30587147
http://dx.doi.org/10.1186/s12881-018-0734-2

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