Article
Mitochondrial diabetes mellitus: prevalence and clinical characterization of diabetes due to mitochondrial tRNA(Leu(UUR)) gene mutation in Japanese patients.
Diabetologia - 1 May 1994
Katagiri H, Asano T, Ishihara H, Inukai K, Anai M, Yamanouchi T, Tsukuda K, Kikuchi M, Kitaoka H, Ohsawa N
Abstract excerpt
Mutations in the mitochondrial gene were recently identified in a large pedigree of diabetes mellitus and deafness. As the mitochondrial gene is materially inherited, Japanese diabetic patients whose mothers were also diabetic were screened, using peripheral leucocytes, for an A to G transition at nucleotide pair 3243 of the mitochondrial gene, a tRNA(Leu(UUR)) mutation. This mutation was identified in four...
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