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Fabry disease: thirty-five mutations in the alpha-galactosidase A gene in patients with classic and variant phenotypes.

BACKGROUND: Fabry disease, an X-linked inborn error of glycosphingolipid catabolism, results from mutations in the alpha-galactosidase A (alpha-Gal A) gene located at Xq22.1. To determine the nature and frequency of the molecular lesions causing the classical and milder variant Fabry phenotypes and...

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Bibliografski detalji
Glavni autori: Eng, C. M., Ashley, G. A., Burgert, T. S., Enriquez, A. L., D'Souza, M., Desnick, R. J.
Format: Artigo
Jezik:Inglês
Izdano: The Feinstein Institute for Medical Research 1997
Teme:
Online pristup:https://ncbi.nlm.nih.gov/pmc/articles/PMC2230047/
https://ncbi.nlm.nih.gov/pubmed/9100224
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