Article
Level of heteroplasmy for the mitochondrial mutation A3243G correlates with age at onset of diabetes and deafness.
Human mutation - 1 Jan 1998
Olsson C, Zethelius B, Lagerström-Fermér M, Asplund J, Berne C, Landegren U
Abstract excerpt
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 among members of three families where the mutation segregates. A striking association was observed between the level...
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