The mitochondrial mutation A3243G has been shown to be associated with a syndrome of diabetes mellitus and sensorineural hearing loss. Using a solid-phase-based sequencing method we have investigated the relation between the proportion of mutant mitochondrial genomes and the time of disease onset am
β¦ LIBER β¦
A new method for analysis of mitochondrial DNA point mutations and assess levels of heteroplasmy
β Scribed by Denise Cassandrini; Maria Grazia Calevo; Alessandra Tessa; Giovanni Manfredi; Fabiana Fattori; Maria Chiara Meschini; Rosalba Carrozzo; Emmanuel Tonoli; Marina Pedemonte; Carlo Minetti; Federico Zara; Filippo M. Santorelli; Claudio Bruno
- Book ID
- 116292345
- Publisher
- Elsevier Science
- Year
- 2006
- Tongue
- English
- Weight
- 299 KB
- Volume
- 342
- Category
- Article
- ISSN
- 0006-291X
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Direct sequencing analysis is largely used to confirm and characterize mutations previously detected by more rapid tests. We have developed a method-Comparative Sequence Analysis (CSA)that simplifies the analysis of sequencing data facilitating its use as a first screen for mutation detection. Seque