Twenty novel mutations in the alpha-galactosidase A gene causing Fabry disease

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Topaloglu A., Ashley G., Tong B., Shabbeer J., Astrin K., Eng C., ...More

MOLECULAR MEDICINE, vol.5, no.12, pp.806-811, 1999 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 5 Issue: 12
  • Publication Date: 1999
  • Doi Number: 10.1007/bf03401993
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.806-811
  • Çukurova University Affiliated: No


Background: Fabry disease, an X-linked inborn error of glycosphingolipid catabolism, results from the deficient activity of the lysosomal exoglycohydrolase alpha-galactosidase A (EC; ct-Gal A). The nature of the molecular lesions in the oc-Gal A gene in 30 unrelated families was determined to provide precise heterozygote detection, prenatal diagnosis, and define genotype-phenotype correlations.