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...

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Detalles Bibliográficos
Autores principales: Shabbeer, Junaid, Yasuda, Makiko, Benson, Stacy D, Desnick, Robert J
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2006
Materias:
Primary Research
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

Internet

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

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