Article
Analysis of splice-site mutations of the alpha-galactosidase A gene in Fabry disease.
Clinical genetics - 1 Jun 2003
Lai L-W, Whitehair O, Wu M-J, O'Meara M, Lien Y-H H
Abstract excerpt
Fabry disease is an X-linked disease caused by a defective lysosomal enzyme, alpha-galactosidase A, and characterized by skin lesions and multiorgan involvement, including kidney, heart, and the central nervous system. Currently more than 200 genotypes have been identified, including several aberrant splicing. However, most of the mutation analyses were performed using genomic sequencing only, and therefore some...
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