A novel point mutation in the human insulin gene giving rise to hyperproinsulinemia (proinsulin Kyoto).

doi:10.1172/JCI115795

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Article

A novel point mutation in the human insulin gene giving rise to hyperproinsulinemia (proinsulin Kyoto).

The Journal of clinical investigation - 1 Jun 1992

Yano H, Kitano N, Morimoto M, Polonsky K S, Imura H, Seino Y

Abstract excerpt

We have identified a 65-yr-old nonobese Japanese man with diabetes mellitus, fasting hyperinsulinemia (150-300 pM), and a reduced fasting C-peptide/insulin molar ratio of 2.5-3.0. Fasting hyperinsulinemia was also found in his son and daughter. Analysis of insulin isolated from the serum of the proband and his son by reverse-phase high performance liquid chromatography revealed a minor peak coeluting with human...

Topics

Adult
Aged
Amino Acid Sequence
Base Sequence
Blotting, Southern
Chromatography, Gel
Chromatography, High Pressure Liquid
DNA
Female
Humans
Hyperinsulinism

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Insulin

Male

Molecular Sequence Data

Mutation

Pedigree

Polymerase Chain Reaction

Proinsulin

Source

Open in PubMed Open full text

Identifiers

PMID: 1601997
DOI: 10.1172/JCI115795
PMCID: PMC295889

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1601997-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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