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

Affiliations

• ¹ Biomedical Research Center, Qatar University, Doha 2713, Qatar; College of Medicine, QU Health, Qatar University, P.O. Box 2713, Doha, Qatar.
• ² College of Medicine, QU Health, Qatar University, P.O. Box 2713, Doha, Qatar.
• ³ Diabetes Research Center (DRC), Qatar Biomedical Research Institute (QBRI), Hamad Bin Khalifa University (HBKU), Doha, Qatar.
• ⁴ Clinical and Metabolic Genetics Section, Pediatrics Department, Hamad General Hospital (HGH), Women's Wellness and Research Center (WWRC), Interim Translational Research Institute (iTRI), Hamad Medical Corporation (HMC), College of Health and Life Science (CHLS), Hamad Bin Khalifa University (HBKU), Doha, Qatar, P.O. Box 3050, Doha, Qatar.
• ⁵ Biomedical Research Center, Qatar University, Doha 2713, Qatar; Department of Biomedical Science, College of Health Sciences, QU Health, Qatar University, P.O. Box 2713, Doha, Qatar.
• ⁶ College of Medicine, QU Health, Qatar University, P.O. Box 2713, Doha, Qatar. Electronic address: mnomikos@qu.edu.qa.