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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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Detalhes bibliográficos
Publicado no:BMC Med Genet
Main Authors: Zhou, Chi, Huang, Jin, Cui, Guanglin, Zeng, Hesong, Wang, Dao Wen, Zhou, Qiang
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2018
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6307325/
https://ncbi.nlm.nih.gov/pubmed/30587147
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-018-0734-2
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