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Twenty novel mutations in the alpha-galactosidase A gene causing Fabry disease.

BACKGROUND: Fabry disease, an X-linked inborn error of glycosphingolipid catabolism, results from the deficient activity of the lysosomal exoglycohydrolase alpha-galactosidase A (EC 3.2.1.22; alpha-Gal A). The nature of the molecular lesions in the alpha-Gal A gene in 30 unrelated families was deter...

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Autors principals: Topaloglu, A. K., Ashley, G. A., Tong, B., Shabbeer, J., Astrin, K. H., Eng, C. M., Desnick, R. J.
Format: Artigo
Idioma:Inglês
Publicat: The Feinstein Institute for Medical Research 1999
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Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC2230489/
https://ncbi.nlm.nih.gov/pubmed/10666480
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