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Fabry disease: isolation of a cDNA clone encoding human alpha-galactosidase A.

Fabry disease is an X-linked inborn error of metabolism resulting from the deficient activity of the lysosomal hydrolase, alpha-galactosidase A (alpha-Gal A; alpha-D-galactoside galactohydrolase, EC 3.2.1.22). To investigate the structure, organization, and expression of alpha-Gal A, as well as the...

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Autors principals: Calhoun, D H, Bishop, D F, Bernstein, H S, Quinn, M, Hantzopoulos, P, Desnick, R J
Format: Artigo
Idioma:Inglês
Publicat: 1985
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Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC391345/
https://ncbi.nlm.nih.gov/pubmed/2997789
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