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A founder mutation in the PLPBP gene in families from Saguenay-Lac-St-Jean region affected by a pyridoxine-dependent epilepsy.
Pal, Maitou; Lace, Baiba; Labrie, Yvan; Laflamme, Nathalie; Rioux, Nadie; Setty, Samarth Thonta; Dugas, Marc-Andre; Gosselin, Louise; Droit, Arnaud; Chrestian, Nicolas; Rivest, Serge.
Afiliação
  • Pal M; Faculty of Medicine Laval University Québec Québec Canada.
  • Lace B; Department of Medical Genetics Centre Mère Enfant Soleil, Laval University Québec Québec Canada.
  • Labrie Y; Centre de recherche CHU de Québec- Université Laval, Laval University Québec Québec Canada.
  • Laflamme N; Centre de recherche CHU de Québec- Université Laval, Laval University Québec Québec Canada.
  • Rioux N; Centre de recherche CHU de Québec- Université Laval, Laval University Québec Québec Canada.
  • Setty ST; Centre de recherche CHU de Québec- Université Laval, Laval University Québec Québec Canada.
  • Dugas MA; Department of Pediatrics Centre Mère Enfant Soleil, Laval University Québec Québec Canada.
  • Gosselin L; Centre de recherche CHU de Québec- Université Laval, Laval University Québec Québec Canada.
  • Droit A; Centre de recherche CHU de Québec- Université Laval, Laval University Québec Québec Canada.
  • Chrestian N; Department of Pediatric Neurology, Pediatric Neuromuscular Disorder Centre Mère Enfant Soleil, Laval University Québec Québec Canada.
  • Rivest S; Centre de recherche CHU de Québec- Université Laval, Laval University Québec Québec Canada.
JIMD Rep ; 59(1): 32-41, 2021 May.
Article em En | MEDLINE | ID: mdl-33977028
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Prognostic_studies Idioma: En Revista: JIMD Rep Ano de publicação: 2021 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Prognostic_studies Idioma: En Revista: JIMD Rep Ano de publicação: 2021 Tipo de documento: Article