Article
Five novel mutations in fourteen patients with Fabry Disease.
Human mutation - 1 Feb 2000
Rosenberg K M, Schiffmann R, Kaneski C, Brady R O, Sorensen S A, Hasholt L
Abstract excerpt
Fabry disease is an X-linked disorder caused by a deficiency of the lysosomal enzyme alpha-galactosidase A. The mutations responsible for Fabry disease are diverse and include large rearrangements as well as single base substitutions, and they are dispersed throughout the seven exons of the gene. In this study, we found five novel mutations in four different exons. We have detected the mutations by the PCR-SSCP...
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