Article
High prevalence of the I278T mutation of the human cystathionine beta-synthase detected by a novel screening application.
Thrombosis and haemostasis - 1 Jun 2001
Linnebank M, Homberger A, Junker R, Nowak-Goettl U, Harms E, Koch H G
Abstract excerpt
Classical homocystinuria due to cystathionine beta-synthase deficiency is one of the disorders revealing a high risk of thromboembolic events and vascular disease. This autosomal-recessively inherited metabolic disorder is considered to be rare with an estimated prevalence of 1:130,000 in the German population. In this study, we developed a novel multiplex PCR generating allele specific fragment lengths to...
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