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

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

Abstract 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 tis...

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Bibliographic Details
Main Authors: Chi Zhou, Jin Huang, Guanglin Cui, Hesong Zeng, Dao Wen Wang, Qiang Zhou
Format: Article
Language:English
Published: BMC 2018-12-01
Series:BMC Medical Genetics
Subjects:
Fabry disease
Genetics
α-Gal a
DGJ
Online Access:http://link.springer.com/article/10.1186/s12881-018-0734-2

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