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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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| 發表在: | BMC Med Genet |
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| Main Authors: | , , , , , |
| 格式: | Artigo |
| 語言: | Inglês |
| 出版: |
BioMed Central
2018
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| 主題: | |
| 在線閱讀: | 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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