Cystathionine beta-synthase
Definition:
References:
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[1]. Viktor Kozich, et al. Cystathionine beta-synthase mutations: effect of mutation topology on folding and activity. Hum Mutat. 2010 Jul;31(7):809-19. [Content Brief]
[2]. L Casique, et al. Characterization of two pathogenic mutations in cystathionine beta-synthase: different intracellular locations for wild-type and mutant proteins. Gene. 2013 Nov 15;531(1):117-24. [Content Brief]
[3]. Marisa I S Mendes, et al. Reduced response of Cystathionine Beta-Synthase (CBS) to S-Adenosylmethionine (SAM): Identification and functional analysis of CBS gene mutations in Homocystinuria patients. J Inherit Metab Dis. 2014 Mar;37(2):245-54. [Content Brief]