تصفح حسب الموضوع "R336C mutation"

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Pyridoxine non-responsive p.R336C mutation alters the molecular properties of cystathionine beta-synthase leading to severe homocystinuria phenotype

Al-Sadeq, Duaa W.; Thanassoulas, Angelos; Islam, Zeyaul; Kolatkar, Prasanna; Al-Dewik, Nader; Safieh-Garabedian, Bared; Nasrallah, Gheyath K.; Nomikos, Michail... more authors ... less authors ( Elsevier , 2022 , Article)
The prevalence of homocystinuria in Qatar is 1:1800, mainly due to a founder missense mutation p.R336C. • The cystathionine beta-synthase (CBS) R336C mutant was bacterially expressed, purified and its molecular properties ...