Article
Twenty novel mutations in the alpha-galactosidase A gene causing Fabry disease.
Molecular medicine (Cambridge, Mass.) - 1 Dec 1999
Topaloglu A K, Ashley G A, Tong B, Shabbeer J, Astrin K H, Eng C M, Desnick R J
Abstract excerpt
BACKGROUND: Fabry disease, an X-linked inborn error of glycosphingolipid catabolism, results from the deficient activity of the lysosomal exoglycohydrolase alpha-galactosidase A (EC 3.2.1.22; alpha-Gal A). The nature of the molecular lesions in the alpha-Gal A gene in 30 unrelated families was determined to provide precise heterozygote detection, prenatal diagnosis, and define genotype-phenotype correlations....
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