Article
Diabetes-associated mitochondrial DNA mutation A3243G impairs cellular metabolic pathways necessary for beta cell function.
Diabetologia - 1 Aug 2006
de Andrade P B M, Rubi B, Frigerio F, van den Ouweland J M W, Maassen J A, Maechler P
Abstract excerpt
AIMS/HYPOTHESIS: Mitochondrial DNA (mtDNA) mutations cause several diseases, including mitochondrial inherited diabetes and deafness (MIDD), typically associated with the mtDNA A3243G point mutation on tRNALeu gene. The common hypothesis to explain the link between the genotype and the phenotype...
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