Identification of a 2244 base pair interstitial deletion within the human ESR1 gene in the Spanish population.

doi:10.1136/jmg.2007.056952

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Article

Identification of a 2244 base pair interstitial deletion within the human ESR1 gene in the Spanish population.

Journal of medical genetics - 1 Jul 2008

Galan J Jorge, Buch B, Pedrinaci S, Jimenez-Gamiz P, Gonzalez A, Serrano-Rios M, Salinas A, Rivero M del Carmen, Real L M, Royo J L, Ruiz A

Abstract excerpt

BACKGROUND: The ESR1 AGATA haplotype is composed of five markers located within introns 5 and 6 of the human oestrogen receptor 1 (ESR1) gene. This haplotype has been studied in several male urogenital tract anomalies and male infertility. In one of these studies, a deviation from Hardy-Weinberg equilibrium (DHW) was found for the ESR1 AGATA marker rs3020375 in two groups of healthy controls. In the present...

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Identifiers

PMID: 18424506
DOI: 10.1136/jmg.2007.056952

Genes

ESR1

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

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