Pyridoxine Non-Responsive P.r336c Mutation Alters the Molecular Properties of Cystathionine Beta-Synthase Leading to Severe Homocystinuria Phenotype
BIOCHIMICA ET BIOPHYSICA ACTA-GENERAL SUBJECTS（2022）
关键词
Homocystinuria,Cystathionine beta-synthase,R336C mutation,Biochemical characterization,Biophysical characterization
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