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QIL1-dependent assembly of MICOS complex-lethal mutation in C19ORF70 resulting in liver disease and severe neurological retardation.
Gödiker, J; Grüneberg, M; DuChesne, I; Reunert, J; Rust, S; Westermann, C; Wada, Y; Classen, G; Langhans, C D; Schlingmann, K P; Rodenburg, R J; Pohlmann, R; Marquardt, T.
Afiliación
  • Gödiker J; Department of General Paediatrics, Metabolic Diseases, University Children's Hospital Muenster, Albert-Schweitzer-Campus 1, Gebäude A1, 48149, Muenster, Germany.
  • Grüneberg M; Department of General Paediatrics, Metabolic Diseases, University Children's Hospital Muenster, Albert-Schweitzer-Campus 1, Gebäude A1, 48149, Muenster, Germany.
  • DuChesne I; Department of General Paediatrics, Metabolic Diseases, University Children's Hospital Muenster, Albert-Schweitzer-Campus 1, Gebäude A1, 48149, Muenster, Germany.
  • Reunert J; Department of General Paediatrics, Metabolic Diseases, University Children's Hospital Muenster, Albert-Schweitzer-Campus 1, Gebäude A1, 48149, Muenster, Germany.
  • Rust S; Department of General Paediatrics, Metabolic Diseases, University Children's Hospital Muenster, Albert-Schweitzer-Campus 1, Gebäude A1, 48149, Muenster, Germany.
  • Westermann C; Gerhard-Domagk-Institute of Pathology, University Hospital Muenster, Domagkstraße 17, 48149, Muenster, Germany.
  • Wada Y; Osaka Medical Center and Research Institute for Maternal and Child Health, 840 Murodo-cho, Izumi, Osaka, 594-1101, Japan.
  • Classen G; Department of General Paediatrics, Evangelisches Klinikum Bethel, Grenzweg 10, 33617, Bielefeld, Germany.
  • Langhans CD; Division of Neuropediatrics and Paediatric Metabolic Medicine, University Children's Hospital Heidelberg, Im Neuenheimer Feld 430, 69120, Heidelberg, Germany.
  • Schlingmann KP; Department of General Paediatrics, University Children's Hospital, Waldeyerstr. 22, 48149, Muenster, Germany.
  • Rodenburg RJ; Department of Paediatrics, Radboud Center for Mitochondrial Medicine, 830 Translational Metabolic Laboratory, Radboud UMC, Nijmegen, The Netherlands.
  • Pohlmann R; Institute of Physiological Chemistry and Pathobiochemistry, University of Muenster, Waldeyerstraße 15, 48149, Muenster, Germany.
  • Marquardt T; Department of General Paediatrics, Metabolic Diseases, University Children's Hospital Muenster, Albert-Schweitzer-Campus 1, Gebäude A1, 48149, Muenster, Germany. marquat@uni-muenster.de.
J Hum Genet ; 63(6): 707-716, 2018 Jun.
Article en En | MEDLINE | ID: mdl-29618761
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Desempeño Psicomotor / Encefalomiopatías Mitocondriales / Proteínas Mitocondriales / Genes Letales / Hepatopatías / Proteínas de la Membrana / Mitocondrias / Mutación Límite: Female / Humans / Infant / Newborn Idioma: En Revista: J Hum Genet Asunto de la revista: GENETICA MEDICA Año: 2018 Tipo del documento: Article País de afiliación: Alemania
Texto completo
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Desempeño Psicomotor / Encefalomiopatías Mitocondriales / Proteínas Mitocondriales / Genes Letales / Hepatopatías / Proteínas de la Membrana / Mitocondrias / Mutación Límite: Female / Humans / Infant / Newborn Idioma: En Revista: J Hum Genet Asunto de la revista: GENETICA MEDICA Año: 2018 Tipo del documento: Article País de afiliación: Alemania