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Article

Mitochondrial DNA A3243G mutation involved in familial diabetes, chronic intestinal pseudo-obstruction and recurrent pancreatitis.

Diabetes & metabolism - 1 Dec 2008

Verny C, Amati-Bonneau P, Letournel F, Person B, Dib N, Malinge M-C, Slama A, Le Maréchal C, Ferec C, Procaccio V, Reynier P, Bonneau D

Abstract excerpt

AIMS: To report on a family with five members who carry the A3243G mutation in mitochondrial tRNA for leucine 1 (MTTL1) and present with diabetes, chronic intestinal pseudo-obstruction (CIPO) and recurrent pancreatitis, and to screen for this mutation in a cohort of 36 unrelated patients with rec...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 18955007
DOI: 10.1016/j.diabet.2008.06.001

Genes

PRSS1
SPINK1
CFTR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-18955007-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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