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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التفاصيل البيبلوغرافية
المؤلف الرئيسي:	Duaa W. Al-Sadeq (10976754) (author)
مؤلفون آخرون:	Angelos Thanassoulas (2822861) (author), Zeyaul Islam (5867387) (author), Prasanna Kolatkar (7532792) (author), Nader Al-Dewik (4166527) (author), Bared Safieh-Garabedian (3554684) (author), Gheyath K. Nasrallah (9200525) (author), Michail Nomikos (17563188) (author)
منشور في:	2022
الموضوعات:	Biological sciences Biochemistry and cell biology Genetics Biomedical and clinical sciences Medical biochemistry and metabolomics Medical physiology Homocystinuria Cystathionine beta-synthase R336C mutation Biochemical characterization Biophysical characterization
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Pyridoxine non-responsive p.R336C mutation alters the molecular properties of cystathionine beta-synthase leading to severe homocystinuria phenotype

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