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Biochemical characterization of two novel mutations in the human high-affinity choline transporter 1 identified in a patient with congenital myasthenic syndrome.
Rizvi, Midhat; Truong, Tina K; Zhou, Janet; Batta, Manav; Moran, Ellen S; Pappas, John; Chu, Mary Lynn; Caluseriu, Oana; Evrony, Gilad D; Leslie, Elaine M; Cordat, Emmanuelle.
Afiliação
  • Rizvi M; Department of Physiology, University of Alberta, Edmonton, Alberta, Canada.
  • Truong TK; Membrane Protein Disease Research Group, University of Alberta, Edmonton, Alberta, Canada.
  • Zhou J; Center for Human Genetics and Genomics, New York University Grossman School of Medicine, New York, NY, USA.
  • Batta M; Membrane Protein Disease Research Group, University of Alberta, Edmonton, Alberta, Canada.
  • Moran ES; Department of Laboratory Medicine and Pathology, University of Alberta, Edmonton, Alberta, Canada.
  • Pappas J; Department of Physiology, University of Alberta, Edmonton, Alberta, Canada.
  • Chu ML; Membrane Protein Disease Research Group, University of Alberta, Edmonton, Alberta, Canada.
  • Caluseriu O; Clinical Genetics, New York University Langone Orthopedic Hospital, New York, NY, USA.
  • Evrony GD; Division of Clinical Genetics, Department of Pediatrics, New York University Grossman School of Medicine, New York, NY, USA.
  • Leslie EM; Department of Neurology, New York University School of Medicine, New York, NY, USA.
  • Cordat E; Department of Medical Genetics, University of Alberta, Edmonton, Alberta, Canada.
Hum Mol Genet ; 32(9): 1552-1564, 2023 04 20.
Article em En | MEDLINE | ID: mdl-36611016
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Síndromes Miastênicas Congênitas / Simportadores / Proteínas Mutantes / Mutação Tipo de estudo: Prognostic_studies Limite: Child / Humans / Male Idioma: En Ano de publicação: 2023 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Síndromes Miastênicas Congênitas / Simportadores / Proteínas Mutantes / Mutação Tipo de estudo: Prognostic_studies Limite: Child / Humans / Male Idioma: En Ano de publicação: 2023 Tipo de documento: Article