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Novel pathogenic VPS13A mutation in Moroccan family with Choreoacanthocytosis: a case report.
Ouchkat, Fatima; Regragui, Wafaa; Smaili, Imane; Naciri Darai, Hajar; Bouslam, Naima; Rahmani, Mounia; Melhaoui, Adyl; Arkha, Yasser; El Fahime, Elmostafa; Bouhouche, Ahmed.
Afiliação
  • Ouchkat F; Research Team in Neurology and Neurogenetics, Genomics Center of Human Pathologies, Faculty of Medicine and Pharmacy, University Mohammed V, Rabat, Morocco.
  • Regragui W; Research Team in Neurology and Neurogenetics, Genomics Center of Human Pathologies, Faculty of Medicine and Pharmacy, University Mohammed V, Rabat, Morocco.
  • Smaili I; Research Team in Neurology and Neurogenetics, Genomics Center of Human Pathologies, Faculty of Medicine and Pharmacy, University Mohammed V, Rabat, Morocco.
  • Naciri Darai H; Research Team in Neurology and Neurogenetics, Genomics Center of Human Pathologies, Faculty of Medicine and Pharmacy, University Mohammed V, Rabat, Morocco.
  • Bouslam N; Research Team in Neurology and Neurogenetics, Genomics Center of Human Pathologies, Faculty of Medicine and Pharmacy, University Mohammed V, Rabat, Morocco.
  • Rahmani M; Research Team in Neurology and Neurogenetics, Genomics Center of Human Pathologies, Faculty of Medicine and Pharmacy, University Mohammed V, Rabat, Morocco.
  • Melhaoui A; Research Team in Neuroncology and Functional Neurosurgery, Faculty of Medicine and Pharmacy, University Mohammed V, Rabat, Morocco.
  • Arkha Y; Research Team in Neuroncology and Functional Neurosurgery, Faculty of Medicine and Pharmacy, University Mohammed V, Rabat, Morocco.
  • El Fahime E; Assistance Units for Scientific and Technical Research (UATRS, CNRST), Allal Fassi/FAR corner, BP 8027, HayRiad, 10000, Rabat, Morocco.
  • Bouhouche A; Research Team in Neurology and Neurogenetics, Genomics Center of Human Pathologies, Faculty of Medicine and Pharmacy, University Mohammed V, Rabat, Morocco. a.bouhouche@um5s.net.ma.
BMC Med Genet ; 21(1): 47, 2020 03 04.
Article em En | MEDLINE | ID: mdl-32131761
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Polimorfismo de Nucleotídeo Único / Proteínas de Transporte Vesicular / Neuroacantocitose Tipo de estudo: Prognostic_studies Limite: Adult / Female / Humans País/Região como assunto: Africa Idioma: En Ano de publicação: 2020 Tipo de documento: Article
Texto completo
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Polimorfismo de Nucleotídeo Único / Proteínas de Transporte Vesicular / Neuroacantocitose Tipo de estudo: Prognostic_studies Limite: Adult / Female / Humans País/Região como assunto: Africa Idioma: En Ano de publicação: 2020 Tipo de documento: Article