Two novel alpha-galactosidase A mutations causing Fabry disease: A missense mutation M11V in a heterozygote woman and a nonsense mutation R190X in a hemizygote man.

CELTIKCI B., TOPÇU M., ÖZKARA H. A.

Clinical biochemistry, cilt.44, ss.809-12, 2011 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 44
  • Basım Tarihi: 2011
  • Doi Numarası: 10.1016/j.clinbiochem.2011.04.022
  • Dergi Adı: Clinical biochemistry
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.809-12
  • Hacettepe Üniversitesi Adresli: Evet

Özet

Objectives: To evaluate the nature of the molecular lesions in the alpha-galactosidase A gene of two patients having Fabry disease.