Detection of mitochondrial DNA deletions in blood using the polymerase chain reaction: non-invasive diagnosis of mitochondrial myopathy

Author:

Poulton J.,Deadman M. E.,Turnbull D. M.,Lake B.,Gardiner R. M.

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference19 articles.

1. Sequence and organisation of the human mitochondrial genome;Anderson;Nature,1981

2. A technique for radiolabelling DNA restriction endonuclease fragments to high specific activity;Feinberg;Anal. Biochem.,1983

3. Deletions of mitochondrial DNA in patients with mitochondrial myopathies;Holt;Nature,1988

4. Mitochondrial myopathies: clinical and biochemical features of 30 patients with major deletions of muscle mitochondrial DNA;Holt;Ann. Neurol.,1989

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1. Genetic testing for mitochondrial disease: the United Kingdom best practice guidelines;European Journal of Human Genetics;2022-12-13

2. Accurate mapping of mitochondrial DNA deletions and duplications using deep sequencing;PLOS Genetics;2020-12-14

3. Mitochondrial DNA and Genetic Disease;Developmental Medicine & Child Neurology;2008-11-12

4. Pathology of Mitochondrial Encephalomyopathies;Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques;2005-05

5. Changes in the human mitochondrial genome after treatment of malignant disease;Mutation Research/Fundamental and Molecular Mechanisms of Mutagenesis;2003-04

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