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A founder AGL mutation causing glycogen storage disease type IIIa in Inuit identified through whole-exome sequencing: a case series.
Rousseau-Nepton, Isabelle; Okubo, Minoru; Grabs, Rosemarie; Mitchell, John; Polychronakos, Constantin; Rodd, Celia.
Afiliação
  • Rousseau-Nepton I; Department of Pediatrics (Rousseau-Nepton, Mitchell, Polychronakos), Montreal Children's Hospital, Montréal, Que.; Okinaka Memorial Institute for Medical Research (Okubo), Tokyo, Japan; Endocrine Genetics Laboratory (Grabs), Montreal Children's Hospital, McGill University Health Centre, Montréal, Qu
  • Okubo M; Department of Pediatrics (Rousseau-Nepton, Mitchell, Polychronakos), Montreal Children's Hospital, Montréal, Que.; Okinaka Memorial Institute for Medical Research (Okubo), Tokyo, Japan; Endocrine Genetics Laboratory (Grabs), Montreal Children's Hospital, McGill University Health Centre, Montréal, Qu
  • Grabs R; Department of Pediatrics (Rousseau-Nepton, Mitchell, Polychronakos), Montreal Children's Hospital, Montréal, Que.; Okinaka Memorial Institute for Medical Research (Okubo), Tokyo, Japan; Endocrine Genetics Laboratory (Grabs), Montreal Children's Hospital, McGill University Health Centre, Montréal, Qu
  • Mitchell J; Department of Pediatrics (Rousseau-Nepton, Mitchell, Polychronakos), Montreal Children's Hospital, Montréal, Que.; Okinaka Memorial Institute for Medical Research (Okubo), Tokyo, Japan; Endocrine Genetics Laboratory (Grabs), Montreal Children's Hospital, McGill University Health Centre, Montréal, Qu
  • Polychronakos C; Department of Pediatrics (Rousseau-Nepton, Mitchell, Polychronakos), Montreal Children's Hospital, Montréal, Que.; Okinaka Memorial Institute for Medical Research (Okubo), Tokyo, Japan; Endocrine Genetics Laboratory (Grabs), Montreal Children's Hospital, McGill University Health Centre, Montréal, Qu
  • Rodd C; Department of Pediatrics (Rousseau-Nepton, Mitchell, Polychronakos), Montreal Children's Hospital, Montréal, Que.; Okinaka Memorial Institute for Medical Research (Okubo), Tokyo, Japan; Endocrine Genetics Laboratory (Grabs), Montreal Children's Hospital, McGill University Health Centre, Montréal, Qu
CMAJ ; 187(2): E68-E73, 2015 Feb 03.
Article em En | MEDLINE | ID: mdl-25602008
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Inuíte / Sistema da Enzima Desramificadora do Glicogênio / Doença de Depósito de Glicogênio Tipo III / Efeito Fundador / Mutação Tipo de estudo: Diagnostic_studies / Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Child, preschool / Female / Humans / Infant / Male País/Região como assunto: America do norte Idioma: En Revista: CMAJ Ano de publicação: 2015 Tipo de documento: Article
Texto completo
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XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Inuíte / Sistema da Enzima Desramificadora do Glicogênio / Doença de Depósito de Glicogênio Tipo III / Efeito Fundador / Mutação Tipo de estudo: Diagnostic_studies / Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Child, preschool / Female / Humans / Infant / Male País/Região como assunto: America do norte Idioma: En Revista: CMAJ Ano de publicação: 2015 Tipo de documento: Article