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., ...Daha Fazla

MOLECULAR MEDICINE, cilt.5, sa.12, ss.806-811, 1999 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 5 Konu: 12
  • Basım Tarihi: 1999
  • Doi Numarası: 10.1007/bf03401993
  • Dergi Adı: MOLECULAR MEDICINE
  • Sayfa Sayıları: ss.806-811

Özet

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; 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.