Deletion of 3 basepairs resulting in the loss of lysine-121 in the insulin receptor alpha-subunit in a patient with leprechaunism: binding, phosphorylation, and biological activity.

doi:10.1210/jcem.79.5.7962321

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Article

Deletion of 3 basepairs resulting in the loss of lysine-121 in the insulin receptor alpha-subunit in a patient with leprechaunism: binding, phosphorylation, and biological activity.

The Journal of clinical endocrinology and metabolism - 1 Nov 1994

Jospe N, Zhu J, Liu R, Livingston J N, Furlanetto R W

Abstract excerpt

We have identified a novel mutation of the human insulin receptor gene in a previously unreported patient with leprechaunism, leprechaun Rochester. This mutation consists of deletion of three nucleotides (GAA) in exon 2 and results in loss of the lysine-121 in the putative ligand-binding domain o...

Topics

Alleles
Animals
Base Sequence
CHO Cells
Cricetinae
DNA
Exons
Female
Gene Deletion
Growth Disorders
Hirsutism
Humans

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Infant, Newborn

Insulin

Lysine

Male

Molecular Sequence Data

Mutation

Source

Open in PubMed

Identifiers

PMID: 7962321
DOI: 10.1210/jcem.79.5.7962321

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-7962321-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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