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Pyridoxine non-responsive p.R336C mutation alters the molecular properties of cystathionine beta-synthase leading to severe homocystinuria phenotype.
Al-Sadeq, Duaa W; Thanassoulas, Angelos; Islam, Zeyaul; Kolatkar, Prasanna; Al-Dewik, Nader; Safieh-Garabedian, Bared; Nasrallah, Gheyath K; Nomikos, Michail.
Afiliação
  • Al-Sadeq DW; Biomedical Research Center, Qatar University, Doha 2713, Qatar; College of Medicine, QU Health, Qatar University, P.O. Box 2713, Doha, Qatar.
  • Thanassoulas A; College of Medicine, QU Health, Qatar University, P.O. Box 2713, Doha, Qatar.
  • Islam Z; Diabetes Research Center (DRC), Qatar Biomedical Research Institute (QBRI), Hamad Bin Khalifa University (HBKU), Doha, Qatar.
  • Kolatkar P; Diabetes Research Center (DRC), Qatar Biomedical Research Institute (QBRI), Hamad Bin Khalifa University (HBKU), Doha, Qatar.
  • Al-Dewik N; 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),
  • Safieh-Garabedian B; College of Medicine, QU Health, Qatar University, P.O. Box 2713, Doha, Qatar.
  • Nasrallah GK; 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.
  • Nomikos M; College of Medicine, QU Health, Qatar University, P.O. Box 2713, Doha, Qatar. Electronic address: mnomikos@qu.edu.qa.
Biochim Biophys Acta Gen Subj ; 1866(7): 130148, 2022 07.
Article em En | MEDLINE | ID: mdl-35417765
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Homocistinúria Limite: Humans Idioma: En Revista: Biochim Biophys Acta Gen Subj Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Qatar
Texto completo
Adicionar na Minha BVS
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Homocistinúria Limite: Humans Idioma: En Revista: Biochim Biophys Acta Gen Subj Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Qatar