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Article

Mutation in mitochondrial tRNA(Leu(UUR)) gene associated with progressive kidney disease.

Journal of the American Society of Nephrology : JASN - 1 Jul 1997

Jansen J J, Maassen J A, van der Woude F J, Lemmink H A, van den Ouweland J M, t' Hart L M, Smeets H J, Bruijn J A, Lemkes H H

Abstract excerpt

Several studies show an association of a guanine for adenine substitution (A-->G) at position 3243 in mitochondrial DNA (mtDNA) with a recently recognized diabetic subtype designated maternally inherited diabetes and deafness (MIDD). This mutation shows heterogeneity in its phenotypic expression as is apparent from its association with several other syndromes. Screening for the 3243A-->G mutation in mtDNA was...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 9219161
DOI: 10.1681/ASN.V871118

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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