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Matchmaking facilitates the diagnosis of an autosomal-recessive mitochondrial disease caused by biallelic mutation of the tRNA isopentenyltransferase (TRIT1) gene.
Kernohan, Kristin D; Dyment, David A; Pupavac, Mihaela; Cramer, Zvi; McBride, Arran; Bernard, Genevieve; Straub, Isabella; Tetreault, Martine; Hartley, Taila; Huang, Lijia; Sell, Erick; Majewski, Jacek; Rosenblatt, David S; Shoubridge, Eric; Mhanni, Aziz; Myers, Tara; Proud, Virginia; Vergano, Samanta; Spangler, Brooke; Farrow, Emily; Kussman, Jennifer; Safina, Nicole; Saunders, Carol; Boycott, Kym M; Thiffault, Isabelle.
Afiliação
  • Kernohan KD; Children's Hospital of Eastern Ontario Research Institute, Ottawa, Ontario, Canada.
  • Dyment DA; Children's Hospital of Eastern Ontario Research Institute, Ottawa, Ontario, Canada.
  • Pupavac M; Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada.
  • Cramer Z; Department of Human Genetics, McGill University, Montréal, Québec, Canada.
  • McBride A; Department of Human Genetics, McGill University, Montréal, Québec, Canada.
  • Bernard G; Children's Hospital of Eastern Ontario Research Institute, Ottawa, Ontario, Canada.
  • Straub I; Department of Human Genetics, McGill University, Montréal, Québec, Canada.
  • Tetreault M; Department of Human Genetics, McGill University, Montréal, Québec, Canada.
  • Hartley T; McGill University and Genome Quebec Innovation Centre, Montreal, Quebec, Canada.
  • Huang L; Children's Hospital of Eastern Ontario Research Institute, Ottawa, Ontario, Canada.
  • Sell E; Children's Hospital of Eastern Ontario Research Institute, Ottawa, Ontario, Canada.
  • Majewski J; Division of Neurology, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada.
  • Rosenblatt DS; Department of Human Genetics, McGill University, Montréal, Québec, Canada.
  • Shoubridge E; McGill University and Genome Quebec Innovation Centre, Montreal, Quebec, Canada.
  • Mhanni A; Department of Human Genetics, McGill University, Montréal, Québec, Canada.
  • Myers T; Department of Human Genetics, McGill University, Montréal, Québec, Canada.
  • Proud V; Section of Genetics and Metabolism, Children's Hospital and the Department of Pediatrics and Child Health, University of Manitoba, Winnipeg, Manitoba, Canada.
  • Vergano S; Department of Pediatrics, Children's Mercy Hospitals, Kansas City, Missouri.
  • Spangler B; Division of Medical Genetics and Metabolism, Children's Hospital of the King's Daughters, Norfolk, Virginia.
  • Farrow E; Division of Medical Genetics and Metabolism, Children's Hospital of the King's Daughters, Norfolk, Virginia.
  • Kussman J; Division of Medical Genetics and Metabolism, Children's Hospital of the King's Daughters, Norfolk, Virginia.
  • Safina N; Center for Pediatric Genomic Medicine, Children's Mercy Hospital, Kansas City, Missouri.
  • Saunders C; Department of Pediatrics, Children's Mercy Hospitals, Kansas City, Missouri.
  • Boycott KM; Department of Pediatrics, Children's Mercy Hospitals, Kansas City, Missouri.
  • Thiffault I; Children's Hospital of Eastern Ontario Research Institute, Ottawa, Ontario, Canada.
Hum Mutat ; 38(5): 511-516, 2017 05.
Article em En | MEDLINE | ID: mdl-28185376
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Alquil e Aril Transferases / Doenças Mitocondriais / Alelos / Genes Recessivos / Mutação Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Adolescent / Child / Child, preschool / Female / Humans / Male Idioma: En Revista: Hum Mutat Assunto da revista: GENETICA MEDICA Ano de publicação: 2017 Tipo de documento: Article País de afiliação: Canadá
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Alquil e Aril Transferases / Doenças Mitocondriais / Alelos / Genes Recessivos / Mutação Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Adolescent / Child / Child, preschool / Female / Humans / Male Idioma: En Revista: Hum Mutat Assunto da revista: GENETICA MEDICA Ano de publicação: 2017 Tipo de documento: Article País de afiliação: Canadá