Article
Cystathionine beta-synthase mutations in homocystinuria.
Human mutation - 1 Jan 1999
Kraus J P, Janosík M, Kozich V, Mandell R, Shih V, Sperandeo M P, Sebastio G, de Franchis R, Andria G, Kluijtmans L A, Blom H, Boers G H, Gordon R B, Kamoun P, Tsai M Y, Kruger W D, Koch H G, Ohura T, Gaustadnes M
Abstract excerpt
The major cause of homocystinuria is mutation of the gene encoding the enzyme cystathionine beta-synthase (CBS). Deficiency of CBS activity results in elevated levels of homocysteine as well as methionine in plasma and urine and decreased levels of cystathionine and cysteine. Ninety-two different disease-associated mutations have been identified in the CBS gene in 310 examined homocystinuric alleles in more than...
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