Molecular basis of fabry disease: Mutati
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Christine M. Eng; Robert J. Desnick
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Article
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1994
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John Wiley and Sons
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English
⚖ 884 KB
Fabry disease, an X-linked inborn error of glycosphingolipid catabolism, results from mutations in the a-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. Fo