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Acadian variant of Fanconi syndrome is caused by mitochondrial respiratory chain complex I deficiency due to a non-coding mutation in complex I assembly factor NDUFAF6.
Hartmannová, Hana; Piherová, Lenka; Tauchmannová, Katerina; Kidd, Kendrah; Acott, Philip D; Crocker, John F S; Oussedik, Youcef; Mallet, Marcel; Hodanová, Katerina; Stránecký, Viktor; Pristoupilová, Anna; Baresová, Veronika; Jedlicková, Ivana; Zivná, Martina; Sovová, Jana; Hulková, Helena; Robins, Vicki; Vrbacký, Marek; Pecina, Petr; Kaplanová, Vilma; Houstek, Josef; Mrácek, Tomás; Thibeault, Yves; Bleyer, Anthony J; Kmoch, Stanislav.
Afiliação
  • Hartmannová H; Institute for Inherited Metabolic Disorders, First Faculty of Medicine, Charles University in Prague, 120 00 Prague 2, Czech Republic.
  • Piherová L; Institute for Inherited Metabolic Disorders, First Faculty of Medicine, Charles University in Prague, 120 00 Prague 2, Czech Republic.
  • Tauchmannová K; Institute of Physiology of the Czech Academy of Sciences, Vídenská 1083, Prague, Czech Republic.
  • Kidd K; Section on Nephrology, Wake Forest School of Medicine, Medical Center Blvd, Winston-Salem, NC, USA.
  • Acott PD; Section of Pediatric Nephrology, Department of Pediatrics, Dalhousie University, Halifax, Nova Scotia, Canada.
  • Crocker JF; IWK Health Center, Halifax, Nova Scotia, Canada.
  • Oussedik Y; Section of Pediatric Nephrology, Department of Pediatrics, Dalhousie University, Halifax, Nova Scotia, Canada.
  • Mallet M; IWK Health Center, Halifax, Nova Scotia, Canada.
  • Hodanová K; Department of Pathology.
  • Stránecký V; Department of Pathology.
  • Pristoupilová A; Institute for Inherited Metabolic Disorders, First Faculty of Medicine, Charles University in Prague, 120 00 Prague 2, Czech Republic.
  • Baresová V; Institute for Inherited Metabolic Disorders, First Faculty of Medicine, Charles University in Prague, 120 00 Prague 2, Czech Republic.
  • Jedlicková I; Institute for Inherited Metabolic Disorders, First Faculty of Medicine, Charles University in Prague, 120 00 Prague 2, Czech Republic.
  • Zivná M; Institute for Inherited Metabolic Disorders, First Faculty of Medicine, Charles University in Prague, 120 00 Prague 2, Czech Republic.
  • Sovová J; Institute for Inherited Metabolic Disorders, First Faculty of Medicine, Charles University in Prague, 120 00 Prague 2, Czech Republic.
  • Hulková H; Institute for Inherited Metabolic Disorders, First Faculty of Medicine, Charles University in Prague, 120 00 Prague 2, Czech Republic.
  • Robins V; Institute for Inherited Metabolic Disorders, First Faculty of Medicine, Charles University in Prague, 120 00 Prague 2, Czech Republic.
  • Vrbacký M; Institute for Inherited Metabolic Disorders, First Faculty of Medicine, Charles University in Prague, 120 00 Prague 2, Czech Republic.
  • Pecina P; Section on Nephrology, Wake Forest School of Medicine, Medical Center Blvd, Winston-Salem, NC, USA.
  • Kaplanová V; Institute of Physiology of the Czech Academy of Sciences, Vídenská 1083, Prague, Czech Republic.
  • Houstek J; Institute of Physiology of the Czech Academy of Sciences, Vídenská 1083, Prague, Czech Republic.
  • Mrácek T; Institute of Physiology of the Czech Academy of Sciences, Vídenská 1083, Prague, Czech Republic.
  • Thibeault Y; Institute of Physiology of the Czech Academy of Sciences, Vídenská 1083, Prague, Czech Republic.
  • Bleyer AJ; Institute of Physiology of the Czech Academy of Sciences, Vídenská 1083, Prague, Czech Republic.
  • Kmoch S; Section of Pulmonology.
Hum Mol Genet ; 25(18): 4062-4079, 2016 09 15.
Article em En | MEDLINE | ID: mdl-27466185
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Texto completo: 1 Coleções: 01-internacional Temas: Geral Base de dados: MEDLINE Assunto principal: Doenças Mitocondriais / Proteínas Mitocondriais / Complexo I de Transporte de Elétrons / Síndrome de Fanconi / Mitocôndrias Limite: Adult / Female / Humans / Male / Middle aged País/Região como assunto: America do norte Idioma: En Revista: Hum Mol Genet Assunto da revista: BIOLOGIA MOLECULAR / GENETICA MEDICA Ano de publicação: 2016 Tipo de documento: Article País de afiliação: República Tcheca
Texto completo
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XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Temas: Geral Base de dados: MEDLINE Assunto principal: Doenças Mitocondriais / Proteínas Mitocondriais / Complexo I de Transporte de Elétrons / Síndrome de Fanconi / Mitocôndrias Limite: Adult / Female / Humans / Male / Middle aged País/Região como assunto: America do norte Idioma: En Revista: Hum Mol Genet Assunto da revista: BIOLOGIA MOLECULAR / GENETICA MEDICA Ano de publicação: 2016 Tipo de documento: Article País de afiliação: República Tcheca