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Article

Clinical and molecular characterization of a novel INS mutation identified in patients with MODY phenotype.

European journal of medical genetics - 1 Nov 2016

Piccini Barbara, Artuso Rosangela, Lenzi Lorenzo, Guasti Monica, Braccesi Giulia, Barni Federica, Casalini Emilio, Giglio Sabrina, Toni Sonia

Abstract excerpt

Correct diagnosis of Maturity-Onset Diabetes of the Young (MODY) is based on genetic tests requiring an appropriate subject selection by clinicians. Mutations in the insulin (INS) gene rarely occur in patients with MODY. This study is aimed at determining the genetic background and clinical phenotype in patients with suspected MODY. 34 patients with suspected MODY, negative for mutations in the GCK, HNF1α, HNF4α,...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to High-Throughput Nucleotide Sequencing

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Source

Identifiers

PMID: 27659712
DOI: 10.1016/j.ejmg.2016.09.016

Genes

INS
GCK
PDX1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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