Quantification of Mitochondrial DNA Deletion, Depletion, and Overreplication: Application to Diagnosis | Zendy

Béatrice Chabi | Zendy; Bénédicte Mousson de Camaret | Zendy; Hervé Duborjal | Zendy; JeanPaul Issartel | Zendy; Georges Stepien | Zendy

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Quantification of Mitochondrial DNA Deletion, Depletion, and Overreplication: Application to Diagnosis

Author(s) -

Béatrice Chabi,

Bénédicte Mousson de Camaret,

Hervé Duborjal,

JeanPaul Issartel,

Georges Stepien

Publication year - 2003

Publication title -

clinical chemistry

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 1.705

H-Index - 218

eISSN - 1530-8561

pISSN - 0009-9147

DOI - 10.1373/49.8.1309

Subject(s) - mitochondrial dna , biology , microbiology and biotechnology , southern blot , real time polymerase chain reaction , nuclear dna , mtdna control region , low copy number , dna , gene , genetics , genome , genotype , haplotype

Many mitochondrial pathologies are quantitative disorders related to tissue-specific deletion, depletion, or overreplication of mitochondrial DNA (mtDNA). We developed an assay for the determination of mtDNA copy number by real-time quantitative PCR for the molecular diagnosis of such alterations.

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