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.

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CELTIKCI B., TOPÇU M., ÖZKARA H. A.

Clinical biochemistry, vol.44, pp.809-12, 2011 (SCI-Expanded)

• Publication Type: Article / Article
• Volume: 44
• Publication Date: 2011
• Doi Number: 10.1016/j.clinbiochem.2011.04.022
• Journal Name: Clinical biochemistry
• Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
• Page Numbers: pp.809-12
• Hacettepe University Affiliated: Yes

Abstract

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