Article
Molecular basis of Fabry disease: mutations and polymorphisms in the human alpha-galactosidase A gene.
Human mutation - 1 Jan 1994
Eng C M, Desnick R J
Abstract excerpt
Fabry disease, an X-linked inborn error of glycosphingolipid catabolism, results from mutations in the alpha-galactosidase A gene at Xq22.1. Studies of the mutations in unrelated Fabry families have identified a variety of lesions indicating the molecular genetic heterogeneity underlying the disease. Forty-nine different mutations have been described including five partial gene deletions, one partial gene...
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