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Fabry disease: Identification of 50 novel α-galactosidase A mutations causing the classic phenotype and three-dimensional structural analysis of 29 missense mutations
Fabry disease, an X-linked recessive inborn error of glycosphingolipid catabolism, results from the deficient activity of the lysosomal exoglycohydrolase, α-galactosidase A (EC 3.2.1.22; α-Gal A). The molecular lesions in the α-Gal A gene causing the classic phenotype of Fabry disease in 66 unrelate...
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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BioMed Central
2006
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3500179/ https://www.ncbi.nlm.nih.gov/pubmed/16595074 http://dx.doi.org/10.1186/1479-7364-2-5-297 |