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A novel NDUFS4 frameshift mutation causes Leigh disease in the Hutterite population.
Lamont, Ryan E; Beaulieu, Chandree L; Bernier, Francois P; Sparkes, Rebecca; Innes, A Micheil; Jackel-Cram, Candice; Ober, Carole; Parboosingh, Jillian S; Lemire, Edmond G.
Affiliation
  • Lamont RE; Department of Medical Genetics, Cumming School of Medicine, University of Calgary, Calgary, AB, Canada.
  • Beaulieu CL; Alberta Children's Hospital Research Institute, University of Calgary, Calgary, AB, Canada.
  • Bernier FP; Department of Medical Genetics, Cumming School of Medicine, University of Calgary, Calgary, AB, Canada.
  • Sparkes R; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON, Canada.
  • Innes AM; Department of Medical Genetics, Cumming School of Medicine, University of Calgary, Calgary, AB, Canada.
  • Jackel-Cram C; Alberta Children's Hospital Research Institute, University of Calgary, Calgary, AB, Canada.
  • Ober C; Department of Medical Genetics, Cumming School of Medicine, University of Calgary, Calgary, AB, Canada.
  • Parboosingh JS; Department of Medical Genetics, Cumming School of Medicine, University of Calgary, Calgary, AB, Canada.
  • Lemire EG; Alberta Children's Hospital Research Institute, University of Calgary, Calgary, AB, Canada.
Am J Med Genet A ; 173(3): 596-600, 2017 Mar.
Article in En | MEDLINE | ID: mdl-27671926
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Phenotype / Ethnicity / Leigh Disease / Frameshift Mutation / Genetic Association Studies / NADH Dehydrogenase Type of study: Etiology_studies / Prognostic_studies Limits: Female / Humans / Infant / Male Country/Region as subject: America do norte Language: En Journal: Am J Med Genet A Journal subject: GENETICA MEDICA Year: 2017 Type: Article Affiliation country: Canada
Fulltext
Print
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PubMed Links
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Phenotype / Ethnicity / Leigh Disease / Frameshift Mutation / Genetic Association Studies / NADH Dehydrogenase Type of study: Etiology_studies / Prognostic_studies Limits: Female / Humans / Infant / Male Country/Region as subject: America do norte Language: En Journal: Am J Med Genet A Journal subject: GENETICA MEDICA Year: 2017 Type: Article Affiliation country: Canada