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Article

Exome sequencing and genetic testing for MODY.

PloS one - 1 Jan 2012

Johansson Stefan, Irgens Henrik, Chudasama Kishan K, Molnes Janne, Aerts Jan, Roque Francisco S, Jonassen Inge, Levy Shawn, Lima Kari, Knappskog Per M, Bell Graeme I, Molven Anders, Njølstad Pål R

Abstract excerpt

CONTEXT: Genetic testing for monogenic diabetes is important for patient care. Given the extensive genetic and clinical heterogeneity of diabetes, exome sequencing might provide additional diagnostic potential when standard Sanger sequencing-based diagnostics is inconclusive. OBJECTIVE: The aim of the study was to examine the performance of exome sequencing for a molecular diagnosis of MODY in patients who have...

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Topics

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Share to Diabetes Mellitus, Type 2
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Genome-Wide Association Study

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Share to Sequence Analysis, DNA

Share to Young Adult

Source

Open in PubMed Open full text

Identifiers

PMID: 22662265
DOI: 10.1371/journal.pone.0038050
PMCID: PMC3360646

Genes

ABCC8
GCK
GLIS3
INS
MADD
NOTCH2
PPARG
WFS1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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