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A recurrent de novo ATP5F1A substitution associated with neonatal complex V deficiency.
Lines, Matthew A; Cuillerier, Alexanne; Chakraborty, Pranesh; Naas, Turaya; Duque Lasio, M Laura; Michaud, Jean; Pileggi, Chantal; Harper, Mary-Ellen; Burelle, Yan; Toler, Tomi L; Sondheimer, Neal; Crawford, Heather P; Millan, Francisca; Geraghty, Michael T.
Afiliação
  • Lines MA; Medical Genetics, Department of Pediatrics, Alberta Children's Hospital, Calgary, AB, Canada.
  • Cuillerier A; Department of Medical Genetics, Cumming School of Medicine, University of Calgary, Calgary, AB, Canada.
  • Chakraborty P; Department of Cellular and Molecular Medicine, Faculty of Medicine, University of Ottawa, Ottawa, ON, Canada.
  • Naas T; Metabolics and Newborn Screening, Children's Hospital of Eastern Ontario, Ottawa, ON, Canada.
  • Duque Lasio ML; Department of Pediatrics, University of Ottawa, Ottawa, ON, Canada.
  • Michaud J; Newborn Screening Ontario, Ottawa, ON, Canada.
  • Pileggi C; Newborn Screening Ontario, Ottawa, ON, Canada.
  • Harper ME; Division of Genetics & Genomic Medicine, Washington University School of Medicine, St. Louis, MO, USA.
  • Burelle Y; Department of Pathology and Laboratory Medicine, University of Ottawa, Ottawa, ON, Canada.
  • Toler TL; Department of Cellular and Molecular Medicine, Faculty of Medicine, University of Ottawa, Ottawa, ON, Canada.
  • Sondheimer N; Department of Cellular and Molecular Medicine, Faculty of Medicine, University of Ottawa, Ottawa, ON, Canada.
  • Crawford HP; Department of Cellular and Molecular Medicine, Faculty of Medicine, University of Ottawa, Ottawa, ON, Canada.
  • Millan F; Interdisciplinary School of Health Sciences, Faculty of Health Sciences, University of Ottawa, Ottawa, ON, Canada.
  • Geraghty MT; Division of Genetics & Genomic Medicine, Washington University School of Medicine, St. Louis, MO, USA.
Eur J Hum Genet ; 29(11): 1719-1724, 2021 11.
Article em En | MEDLINE | ID: mdl-34483339
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Doenças Mitocondriais / ATPases Mitocondriais Próton-Translocadoras Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: Eur J Hum Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Canadá País de publicação: Reino Unido
Texto completo
Adicionar na Minha BVS
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Doenças Mitocondriais / ATPases Mitocondriais Próton-Translocadoras Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: Eur J Hum Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Canadá País de publicação: Reino Unido