Characterization of mtDNA variation in a cohort of South African paediatric patients with mitochondrial disease
- Author
- DER WALT, Elizna M.van1 ; SMUTS, Izelle2 ; TAYLOR, Robert W3 ; ELSON, Joanna L3 ; TURNBULL, Douglass M3 ; LOUW, Roan1 ; DER WESTHUIZEN, Francois H.van1 3
[1] Centre for Human Metabonomics, North-West University, Potchefstroom, South Africa
[2] Department of Paediatrics and Child Health, Steve Biko Academic Hospital, University of Pretoria, South Africa
[3] Mitochondrial Research Group, Institute for Ageing and Health, Newcastle University, Newcastle upon Tyne, United Kingdom - Source
European journal of human genetics. 2012, Vol 20, Num 6, pp 650-656, 7 p ; ref : 39 ref
- Publisher
- Nature Publishing Group, Basingstoke
- Publication country
- United Kingdom
- Document type
- Article
- Language
- English
- Author keyword
- Africa high-throughput nucleotide sequencing mitochondrial DNA mitochondrial diseases paediatrics
- Keyword (fr)
- Caractérisation Cytopathie mitochondriale DNA mitochondrial Enfant Etude cohorte Génétique Nucléotide Séquence nucléotide Séquençage Variation Maladie mitochondriale Afrique du Sud Enzymopathie Homme Maladie héréditaire Maladie métabolique Afrique
- Keyword (en)
- Characterization Mitochondrial disorder Mitochondrial DNA Child Cohort study Genetics Nucleotide Nucleotide sequence Sequencing Variations South Africa Enzymopathy Human Genetic disease Metabolic diseases Africa
- Keyword (es)
- Caracterización Citopatía mitocondrial DNA mitocondrial Niño Estudio cohorte Genética Nucleótido Secuencia nucleótido Sequencing Variación Sudáfrica Enzimopatía Hombre Enfermedad hereditaria Metabolismo patología Africa
- Classification
- Pascal
- 002 Biological and medical sciences / 002A Fundamental and applied biological sciences. Psychology / 002A04 Molecular and cellular biology
- Pascal
- 002 Biological and medical sciences / 002A Fundamental and applied biological sciences. Psychology / 002A07 Genetics of eukaryotes. Biological and molecular evolution
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B22 Metabolic diseases / 002B22D Errors of metabolism / 002B22D05 Miscellaneous hereditary metabolic disorders
- Discipline
- Eukaryotes genetics. Biological and molecular evolution Medical genetics Metabolic diseases Molecular and cell biology
- Origin
- Inist-CNRS
- Database
- PASCAL
- INIST identifier
- 25913638
Sauf mention contraire ci-dessus, le contenu de cette notice bibliographique peut être utilisé dans le cadre d’une licence CC BY 4.0 Inist-CNRS / Unless otherwise stated above, the content of this bibliographic record may be used under a CC BY 4.0 licence by Inist-CNRS / A menos que se haya señalado antes, el contenido de este registro bibliográfico puede ser utilizado al amparo de una licencia CC BY 4.0 Inist-CNRS
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DOI
10.1038/ejhg.2011.262 
https://dx.doi.org/10.1038/ejhg.2011.262
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