Browsing Medicine Research by Subject "mutations in the CBS gene"
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STRUCTURAL AND FUNCTIONAL APPROACHES TOWARD ACTIVITY RESTORATION OF NOVEL CYSTATHIONINE BETA-SYNTHASE MUTATIONS
(2024 , Dissertation)Homocystinuria, a rare disorder stemming from mutations in the CBS gene, results in cystathionine β-synthase (CBS) deficiency. CBS is a pivotal enzyme whose activity is enhanced by the allosteric regulator S-adenosylmethionine ...