Your browser doesn't support javascript.
loading
A novel mutation in FBXL4 in a Norwegian child with encephalomyopathic mitochondrial DNA depletion syndrome 13.
Barøy, Tuva; Pedurupillay, Christeen Ramane J; Bliksrud, Yngve T; Rasmussen, Magnhild; Holmgren, Asbjørn; Vigeland, Magnus D; Hughes, Timothy; Brink, Maaike; Rodenburg, Richard; Nedregaard, Bård; Strømme, Petter; Frengen, Eirik; Misceo, Doriana.
Afiliação
  • Barøy T; Department of Medical Genetics, Oslo University Hospital and University of Oslo, 0407, Oslo, Norway. Electronic address: tuva.baroy@medisin.uio.no.
  • Pedurupillay CR; Department of Medical Genetics, Oslo University Hospital and University of Oslo, 0407, Oslo, Norway. Electronic address: p.j.c.ramane@medisin.uio.no.
  • Bliksrud YT; Department of Medical Biochemistry, Oslo University Hospital, 0424, Oslo, Norway. Electronic address: ybliksru@ous-hf.no.
  • Rasmussen M; Department of Clinical Neurosciences for Children, Women and Children's Division, Oslo and University Hospital and University of Oslo, 0407, Oslo, Norway. Electronic address: marasmus@ous-hf.no.
  • Holmgren A; Department of Medical Genetics, Oslo University Hospital and University of Oslo, 0407, Oslo, Norway. Electronic address: asbjorh@student.matnat.uio.no.
  • Vigeland MD; Department of Medical Genetics, Oslo University Hospital and University of Oslo, 0407, Oslo, Norway. Electronic address: magnusdv@medisin.uio.no.
  • Hughes T; Department of Medical Genetics, Oslo University Hospital and University of Oslo, 0407, Oslo, Norway. Electronic address: timothy.hughes@medisin.uio.no.
  • Brink M; Department of Pediatrics, Nijmegen Centre for Mitochondrial Disorders, Radboud University Nijmegen Medical Centre, Geert Grooteplein 10, PO Box 9101, 6500 HB Nijmegen, The Netherlands. Electronic address: Maaike.Brink@radboudumc.nl.
  • Rodenburg R; Department of Pediatrics, Nijmegen Centre for Mitochondrial Disorders, Radboud University Nijmegen Medical Centre, Geert Grooteplein 10, PO Box 9101, 6500 HB Nijmegen, The Netherlands. Electronic address: Richard.Rodenburg@radboudumc.nl.
  • Nedregaard B; Department of Radiology and Nuclear Medicine, Oslo University Hospital, 0424, Oslo, Norway. Electronic address: bnedrega@ous-hf.no.
  • Strømme P; Department of Clinical Neurosciences for Children, Women and Children's Division, Oslo and University Hospital and University of Oslo, 0407, Oslo, Norway. Electronic address: petter.stromme@medisin.uio.no.
  • Frengen E; Department of Medical Genetics, Oslo University Hospital and University of Oslo, 0407, Oslo, Norway. Electronic address: eirik.frengen@medisin.uio.no.
  • Misceo D; Department of Medical Genetics, Oslo University Hospital and University of Oslo, 0407, Oslo, Norway. Electronic address: doriana.misceo@medisin.uio.no.
Eur J Med Genet ; 59(6-7): 342-6, 2016 Jun.
Article em En | MEDLINE | ID: mdl-27182039
Assuntos
Palavras-chave
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: DNA Mitocondrial / Encefalomiopatias Mitocondriais / Músculo Esquelético / Ubiquitina-Proteína Ligases / Proteínas F-Box Tipo de estudo: Prognostic_studies Limite: Child / Humans / Male País/Região como assunto: Europa Idioma: En Revista: Eur J Med Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2016 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: DNA Mitocondrial / Encefalomiopatias Mitocondriais / Músculo Esquelético / Ubiquitina-Proteína Ligases / Proteínas F-Box Tipo de estudo: Prognostic_studies Limite: Child / Humans / Male País/Região como assunto: Europa Idioma: En Revista: Eur J Med Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2016 Tipo de documento: Article