Identification and characterisation of a novel GHR defect disrupting the polypyrimidine tract and resulting in GH insensitivity.

doi:10.1530/EJE-09-0583

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Article

Identification and characterisation of a novel GHR defect disrupting the polypyrimidine tract and resulting in GH insensitivity.

European journal of endocrinology - 1 Jan 2010

David A, Miraki-Moud F, Shaw N J, Savage M O, Clark A J L, Metherell L A

Abstract excerpt

OBJECTIVE: GH insensitivity (GHI) is caused in the majority of cases by impaired function of the GH receptor (GHR). All but one known GHR mutation are in the coding sequence or the exon/intron boundaries. We identified and characterised the first intronic defect occurring in the polypyrimidine tract of the GHR in a patient with severe GHI. DESIGN: We investigated the effect of the novel defect on mRNA splicing...

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PMID: 19812236
DOI: 10.1530/EJE-09-0583
PMCID: PMC2792980

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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.