Assessing Heteroplasmic Load in Leber's Hereditary Optic Neuropathy Mutation 3460G→A/MT-ND1 with A Real-Time PCR Quantitative Approach
- 30 September 2007
- journal article
- Published by Elsevier in The Journal of Molecular Diagnostics
- Vol. 9 (4) , 538-545
- https://doi.org/10.2353/jmoldx.2007.060183
Abstract
No abstract availableKeywords
This publication has 28 references indexed in Scilit:
- Rapid and Sensitive Real-Time Polymerase Chain Reaction Method for Detection and Quantification of 3243A>G Mitochondrial Point MutationThe Journal of Molecular Diagnostics, 2006
- A new method for analysis of mitochondrial DNA point mutations and assess levels of heteroplasmyBiochemical and Biophysical Research Communications, 2006
- Haplogroup Effects and Recombination of Mitochondrial DNA: Novel Clues from the Analysis of Leber Hereditary Optic Neuropathy PedigreesAmerican Journal of Human Genetics, 2006
- Accurate Detection and Quantitation of Heteroplasmic Mitochondrial Point Mutations by PyrosequencingGenetic Testing, 2005
- Pathogenic expression of homoplasmic mtDNA mutations needs a complex nuclear–mitochondrial interactionTrends in Genetics, 2003
- Phosphorus MR spectroscopy shows a tissue specific in vivo distribution of biochemical expression of the G3460A mutation in Leber's hereditary optic neuropathyJournal of Neurology, Neurosurgery & Psychiatry, 2002
- Analysis of Relative Gene Expression Data Using Real-Time Quantitative PCR and the 2−ΔΔCT MethodMethods, 2001
- Functional Analysis of Lymphoblast and Cybrid Mitochondria Containing the 3460, 11778, or 14484 Leber's Hereditary Optic Neuropathy Mitochondrial DNA MutationJournal of Biological Chemistry, 2000
- Low-Penetrance Branches in Matrilineal Pedigrees with Leber Hereditary Optic NeuropathyAmerican Journal of Human Genetics, 1998
- Sequence and organization of the human mitochondrial genomeNature, 1981