Zobrazeno 1 - 1
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pro vyhledávání: '"HCU, classical homocystinuria"'
Autor:
Katherine H. Overdier, Gary Brodsky, Milan Elleder, Rima Rozen, Kenneth N. Maclean, Viktor Kožich, Linda S. Crnic, Lori S. Greiner, Hua Jiang, Lynne Meltesen, Renata Collard, Jakub Krijt, Jakub Sikora, David Patterson, Sally P. Stabler, Robert H. Allen, Eva Kraus, Jan P. Kraus
Publikováno v:
Molecular Genetics and Metabolism
Cystathionine beta-synthase (CBS) catalyzes the condensation of homocysteine (Hcy) and serine to cystathionine, which is then hydrolyzed to cysteine by cystathionine gamma-lyase. Inactivation of CBS results in CBS-deficient homocystinuria more common