Quantification of mitochondrial DNA deletion, depletion, and overreplication: Application to diagnosis
- Author
- CHABI, Béatrice1 ; MOUSSON DE CAMARET, Bénédicte2 ; DUBORJAL, Hervé3 ; ISSARTEL, Jean-Paul3 ; STEPIENI, Georges1
[1] Unité du Métabolisme Protéino Energétique, UMR INRA 1019, 63009 Clermont-Ferrand, France
[2] Laboratoire de Biochimie, Hôpital Debrousse, Hospices Civils de Lyon, 69322 Lyon, France
[3] Laboratoire de Biolphysique Moléculaire et Cellulaire, UMR CNRS 5090, CEA Grenoble, 38054 Grenoble, France - Source
Clinical chemistry (Baltimore, Md.). 2003, Vol 49, Num 8, pp 1309-1317, 9 p ; ref : 38 ref
- CODEN
- CLCHAU
- ISSN
- 0009-9147
- Scientific domain
- Biochemistry, molecular biology, biophysics; Medical laboratory techniques; General medicine general surgery
- Publisher
- American Association for Clinical Chemistry, Washington, DC
- Publication country
- United States
- Document type
- Article
- Language
- English
- Keyword (fr)
- Analyse quantitative Cytopathie mitochondriale DNA mitochondrial Diagnostic Homme Mutation Nombre copie Réaction chaîne polymérase Réplication Technique mesure Temps réel Biologie moléculaire Enzymopathie Maladie héréditaire Métabolisme pathologie
- Keyword (en)
- Quantitative analysis Mitochondrial disorder Mitochondrial DNA Diagnosis Human Mutation Copy number Polymerase chain reaction Replication Measurement technique Real time Molecular biology Enzymopathy Genetic disease Metabolic diseases
- Keyword (es)
- Análisis cuantitativo Citopatía mitocondrial DNA mitocondrial Diagnóstico Hombre Mutación Número copia Reacción cadena polimerasa Replicación Técnica medida Tiempo real Biología molecular Enzimopatía Enfermedad hereditaria Metabolismo patología
- Classification
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B22 Metabolic diseases / 002B22D Errors of metabolism / 002B22D05 Miscellaneous hereditary metabolic disorders
- Discipline
- Metabolic diseases
- Origin
- Inist-CNRS
- Database
- PASCAL
- INIST identifier
- 15008052
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
10.1373/49.8.1309 
https://dx.doi.org/10.1373/49.8.1309
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