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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| Main Authors: | , , , , , |
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| Format: | Book |
| Published: |
BMC,
2018-12-01T00:00:00Z.
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