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Homocystinuria: Biosynthesis of Cystathionine and Homolanthionine

✍ Scribed by Tallan, Harris; Sturman, John; Hodes, Horace; Gaull, Gerald; Wada, Yoshiro; Schneidman, Karmela; Rassin, David

Book ID
111927109
Publisher
Nature Publishing Group
Year
1970
Tongue
English
Weight
254 KB
Volume
4
Category
Article
ISSN
0031-3998

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The major cause of homocystinuria is mutation of the gene encoding the enzyme cystathionine bsynthase (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 diseas