Article
Molecular and clinical characterisation of homocystinuria in two Austrian families with cystathionine beta-synthase deficiency.
Acta medica Austriaca - 1 Jan 2001
Tröndle U, Sunder-Plassmann G, Burgmann H, Buchmayer H, Kramer L, Bieglmayer C, Hörl W H, Födinger M
Abstract excerpt
The influence of the genotype on the phenotypic expression of homocystinuria due to cystathionine beta-synthase (CBS) deficiency is frequently unclear. We therefore investigated the genotype and the phenotype of CBS deficiency in two Austrian families also considering genetic polymorphisms with a putative association with vascular disease (MTHFR 677C-->T, MTHFR 1298A-->C, F5 1691G-->A, F2 20210G-->A) and response...
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