Article
Identification of fifteen novel mutations and genotype-phenotype relationship in Fabry disease.
Clinical genetics - 1 Jul 2001
Altarescu G M, Goldfarb L G, Park K Y, Kaneski C, Jeffries N, Litvak S, Nagle J W, Schiffmann R
Abstract excerpt
Fabry disease is an X-linked recessive disorder caused by a deficiency in the lysosomal enzyme alpha-galactosidase A, which results in a progressive multisystem disease. Most families have private mutations and no general correlation between genotype and disease manifestations has been described to date. Forty-nine patients (47 males and 2 females) from 36 affected families were selected for the study. Their...
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