## Abstract ## Objective We studied the prevalence, segregation, and phenotype of the mitochondrial DNA 3243A>G mutation in children in a defined population in Northern Ostrobothnia, Finland. ## Methods Children with diagnoses commonly associated with mitochondrial diseases were ascertained. Blo
β¦ LIBER β¦
Varying loads of the mitochondrial DNA A3243G mutation in different tissues: Implications for diagnosis
β Scribed by Shanske, Sara ;Pancrudo, Jacklyn ;Kaufmann, Petra ;Engelstad, Kristin ;Jhung, Sarah ;Lu, Jiesheng ;Naini, Ali ;DiMauro, Salvatore ;De Vivo, Darryl C.
- Publisher
- John Wiley and Sons
- Year
- 2004
- Tongue
- English
- Weight
- 102 KB
- Volume
- 130A
- Category
- Article
- ISSN
- 0148-7299
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We have developed an improved allele-specific polymerase chain reaction (AS-PCR) procedure that can selectively amplify mutant DNA sequences (which differ from the normal sequences by a single base pair) in the presence of large excess of normal sequences. We applied this procedure to quantification