Article
Expression study of mutant cystathionine beta-synthase found in Japanese patients with homocystinuria.
Molecular genetics and metabolism - 1 Apr 2006
Katsushima Fumio, Oliveriusova Jana, Sakamoto Osamu, Ohura Toshihiro, Kondo Yoshiaki, Iinuma Kazuie, Kraus Eva, Stouracova Renata, Kraus Jan P
Abstract excerpt
Cystathionine beta-synthase (CBS) deficiency is the most common cause of homocystinuria. More than 130 pathogenic mutations, mostly in the Caucasian populations, have been described. Recently, our group reported a mutation analysis of Japanese homocystinuric patients. In the present paper, we report an expression study of several mutant CBS enzymes in Escherichia coli, i.e., R121H, G148R, G151R, S217F, H232D,...
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