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Article

Homozygous nonsense mutation in the insulin receptor gene in infant with leprechaunism.

Lancet (London, England) - 31 Jul 1993

Krook A, Brueton L, O'Rahilly S

Abstract excerpt

Mutations in the insulin receptor gene have been detected in patients with severe insulin resistance, but the absence of insulin receptors has not been recorded. We report a severely insulin resistant newborn baby, the offspring of consainguineous parents, who was homozygous for a nonsense mutation (Lys 121-Amber) in this gene. Translation of this very truncated N-terminal fragment would not be expected to result...

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Identifiers

PMID: 8101305
DOI: 10.1016/0140-6736(93)91820-c

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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