Article
Molecular genetics of homocysteine metabolism.
Mineral and electrolyte metabolism - 1 Jan 2000
Födinger M, Buchmayer H, Sunder-Plassmann G
Abstract excerpt
Recent genetic studies have led to the characterization of molecular determinants contributing to the pathogenesis of hyperhomocysteinemia. In this article we summarize the current insights into the molecular genetics of severe, moderate and mild hyperhomocysteinemia. We will consider deficiencies of the trans-sulfuration enzyme cystathionine beta-synthase (gene symbol: CBS), and the disturbances of the...
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