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Article

[Founder effect of E180splice mutation in growth hormone receptor gene (GHR) identified in Brazilian patients with GH insensitivity].

Arquivos brasileiros de endocrinologia e metabologia - 1 Jun 2005

Jorge Alexander A de Lima, Menezes Filho Hamilton C de, Lins Theresa S Soares, Guedes Dulce Rondini, Damiani Durval, Setian Nuvarte, Arnhold Ivo J Prado, Mendonça Berenice B de

Abstract excerpt

We studied the growth hormone receptor (GHR) gene in 6 patients with Laron syndrome (LS) from 4 unrelated families. Exons 2 to 10 were amplified by PCR using specific intronic pairs of primers. The PCR products were directly sequenced. Our results showed that all 6 patients carried a homozygous GAG>GAA mutation in codon 180 of exon 6. This mutation did not change the translated amino acid, but created an abnormal...

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Source

Identifiers

PMID: 16543992
DOI: 10.1590/s0004-27302005000300009

Genes

GHR
GAA

Provenance

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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[Founder effect of E180splice mutation in growth hormone receptor gene (GHR) identified in Brazilian patients with GH insensitivity].PMID 16543992Read ↗

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