Article
High homocysteine and thrombosis without connective tissue disorders are associated with a novel class of cystathionine beta-synthase (CBS) mutations.
Human mutation - 1 Jun 2002
Maclean Kenneth N, Gaustadnes Mette, Oliveriusová Jana, Janosík Miroslav, Kraus Eva, Kozich Viktor, Kery Vladimír, Skovby Flemming, Rüdiger Niels, Ingerslev Jørgen, Stabler Sally P, Allen Robert H, Kraus Jan P
Abstract excerpt
Cystathionine beta-synthase (CBS) is a crucial regulator of plasma levels of the thrombogenic amino acid homocysteine (Hcy). Homocystinuria due to CBS deficiency confers a dramatically increased risk of thrombosis. Early diagnosis usually occurs after the observation of ectopia lentis, mental retardation, or characteristic skeletal abnormalities. Homocystinurics with this phenotype typically carry mutations in...
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