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Article

Analysis of the influence of the T393C polymorphism of the GNAS gene on the clinical expression of primary hyperparathyroidism.

Endocrinologia, diabetes y nutricion - 1 Dec 2017

Piedra María, Berja Ana, Ramos Laura, García-Unzueta María Teresa, Morán Jesús Manuel, Ruiz David, Amado José Antonio

Abstract excerpt

BACKGROUND: The receptor of parathyroid hormone and parathyroid hormone-related-protein (PTH/PTHrp) is located in the cell membrane of target tissues - kidney and osteoblasts. It is a G protein-coupled-receptor whose Gsα subunit is encoded by the GNAS gene. Our aim was to study whether the single nucleotide polymorphism (SNP) T393C of the GNAS gene is associated with renal stones, bone mineral density (BMD), or...

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Source

Identifiers

PMID: 29179855
DOI: 10.1016/j.endinu.2017.08.006

Genes

GNAS
PTH

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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