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Mutation in mitochondrial complex IV subunit COX5A causes pulmonary arterial hypertension, lactic acidemia, and failure to thrive.
Baertling, Fabian; Al-Murshedi, Fathiya; Sánchez-Caballero, Laura; Al-Senaidi, Khalfan; Joshi, Niranjan P; Venselaar, Hanka; van den Brand, Mariël Am; Nijtmans, Leo Gj; Rodenburg, Richard Jt.
Afiliação
  • Baertling F; Department of Pediatrics, Radboud Centre for Mitochondrial Medicine, Radboud University Medical Centre, Nijmegen, The Netherlands.
  • Al-Murshedi F; Department of General Pediatrics, Neonatology and Pediatric Cardiology, University Children's Hospital Duesseldorf, Heinrich Heine University, Düsseldorf, Germany.
  • Sánchez-Caballero L; Genetic and Developmental Medicine Clinic, Department of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University, Muscat, Oman.
  • Al-Senaidi K; Department of Pediatrics, Radboud Centre for Mitochondrial Medicine, Radboud University Medical Centre, Nijmegen, The Netherlands.
  • Joshi NP; Pediatric Cardiology Unit, Department of Child Health, Sultan Qaboos University Hospital, Sultan Qaboos University, Muscat, Oman.
  • Venselaar H; Pediatric Cardiology Unit, Department of Child Health, Sultan Qaboos University Hospital, Sultan Qaboos University, Muscat, Oman.
  • van den Brand MA; Centre for Molecular and Biomolecular Informatics, Radboud University, Nijmegen, The Netherlands.
  • Nijtmans LG; Department of Pediatrics, Radboud Centre for Mitochondrial Medicine, Radboud University Medical Centre, Nijmegen, The Netherlands.
  • Rodenburg RJ; Department of Pediatrics, Radboud Centre for Mitochondrial Medicine, Radboud University Medical Centre, Nijmegen, The Netherlands.
Hum Mutat ; 38(6): 692-703, 2017 06.
Article em En | MEDLINE | ID: mdl-28247525
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Acidose Láctica / Grupo dos Citocromos c / Ciclo-Oxigenase 1 / Insuficiência de Crescimento / Hipertensão Pulmonar Tipo de estudo: Etiology_studies Limite: Humans Idioma: En Ano de publicação: 2017 Tipo de documento: Article
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Acidose Láctica / Grupo dos Citocromos c / Ciclo-Oxigenase 1 / Insuficiência de Crescimento / Hipertensão Pulmonar Tipo de estudo: Etiology_studies Limite: Humans Idioma: En Ano de publicação: 2017 Tipo de documento: Article