Article
Role of mitochondrial DNA tRNA leucine and glucagon receptor missense mutations in Utah white diabetic patients.
Diabetes care - 1 May 1996
Elbein S C, Hoffman M D
Abstract excerpt
Recently, subtypes of typical NIDDM were suggested based on missense mutations of mitochondrial DNA [tRNALeu(UUR)] and the glucagon receptor gene (Gly40Ser). Together these mutations might explain NIDDM in 5--8% of patients. To test the hypothesis that these mutations play an important role in a Northern European population with a strong family history of diabetes, we screened members of 45 families selected for...
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