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Gain-of-function mutation in TRPV4 identified in patients with osteonecrosis of the femoral head.
Mah, Wayne; Sonkusare, Swapnil K; Wang, Tracy; Azeddine, Bouziane; Pupavac, Mihaela; Carrot-Zhang, Jian; Hong, Kwangseok; Majewski, Jacek; Harvey, Edward J; Russell, Laura; Chalk, Colin; Rosenblatt, David S; Nelson, Mark T; Séguin, Chantal.
Afiliação
  • Mah W; Division of Hematology and Oncology, Department of Medicine, McGill University Health Centre, Montreal, Quebec, Canada.
  • Sonkusare SK; Department of Pharmacology, University of Vermont, Burlington, Vermont, USA Department of Molecular Physiology and Biological Physics, University of Virginia, Charlottesville, Virginia, USA.
  • Wang T; Division of Hematology and Oncology, Department of Medicine, McGill University Health Centre, Montreal, Quebec, Canada.
  • Azeddine B; Division of Hematology and Oncology, Department of Medicine, McGill University Health Centre, Montreal, Quebec, Canada.
  • Pupavac M; Department of Human Genetics, McGill University, Montreal, Quebec, Canada.
  • Carrot-Zhang J; Department of Human Genetics, McGill University, Montreal, Quebec, Canada Department of Human Genetics, McGill University and Genome Québec Innovation Centre, Montreal, Quebec, Canada.
  • Hong K; Department of Molecular Physiology and Biological Physics, University of Virginia, Charlottesville, Virginia, USA.
  • Majewski J; Department of Human Genetics, McGill University, Montreal, Quebec, Canada Department of Human Genetics, McGill University and Genome Québec Innovation Centre, Montreal, Quebec, Canada.
  • Harvey EJ; Department of Surgery, Division of Orthopaedic Surgery, McGill University Health Centre, Montreal, Quebec, Canada.
  • Russell L; Department of Human Genetics, McGill University, Montreal, Quebec, Canada.
  • Chalk C; Department of Neurology & Neurosurgery, McGill University, Montreal, Quebec, Canada.
  • Rosenblatt DS; Department of Human Genetics, McGill University, Montreal, Quebec, Canada.
  • Nelson MT; Department of Pharmacology, University of Vermont, Burlington, Vermont, USA Institute of Cardiovascular Sciences, University of Manchester, Manchester, UK.
  • Séguin C; Division of Hematology and Oncology, Department of Medicine, McGill University Health Centre, Montreal, Quebec, Canada.
J Med Genet ; 53(10): 705-9, 2016 10.
Article em En | MEDLINE | ID: mdl-27330106

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Canais de Cátion TRPV / Necrose da Cabeça do Fêmur / Mutação Tipo de estudo: Prognostic_studies Limite: Adult / Female / Humans / Male Idioma: En Ano de publicação: 2016 Tipo de documento: Article

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Canais de Cátion TRPV / Necrose da Cabeça do Fêmur / Mutação Tipo de estudo: Prognostic_studies Limite: Adult / Female / Humans / Male Idioma: En Ano de publicação: 2016 Tipo de documento: Article