Pyridoxine non-responsive p.R336C mutation alters the molecular properties of cystathionine beta-synthase leading to severe homocystinuria phenotype
<ul><li>The prevalence of homocystinuria in Qatar is 1:1800, mainly due to a founder missense mutation p.R336C.</li><li>The cystathionine beta-synthase (CBS) R336C mutant was bacterially expressed, purified and its molecular properties were compared to CBS wild type (WT) reco...
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2022
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