Publication:
The investigation and diagnosis of pathogenic mitochondrial DNA mutations in human urothelial cells (2010)
Author(s): Blackwood JK, Whittaker RG, Blakely EL, Alston CL, Turnbull DM, Taylor RW
- Date: 18-02-2010
- Journal: Biochemical and Biophysical Research Communications
- Volume: 393
- Issue: 4
- Pages: 740-745
- Publisher: Academic Press
- Publication type: Article
- Bibliographic status: Published
- URL: http://dx.doi.org/10.1016/j.bbrc.2010.02.072
- DOI: 10.1016/j.bbrc.2010.02.072
- ISSN (electronic): 1090-2104
Keywords: Mitochondrial DNA (mtDNA) Heteroplasmy MELAS Urothelial cells mtDNA rearrangements Non-invasive diagnosis Ragged red fibres Real-time PCR Gene mutation MTDNA mutation Tissue distribution Myoclonus epilepsy Individual cells Point mutation Pure myopathy Human disease
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Dr Roger Whittaker
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