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Article

[Phenotype-genotype correlation in mutations of the gonadotrophin receptor gene in women].

Annales d'endocrinologie - 1 May 2010

Touraine P

Abstract excerpt

Different mutations have been described in LH and FSH genes as well as in their receptors. These mutations are either activating (gain of function), or inhibiting (loss of function). Activating mutations are expressed as a dominant trait, thus in the heterozygous state, whereas inhibiting mutations are only expressed when both alleles bear the mutation. Inactivating mutations of FSH receptor gene, in women, are...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 20362971
DOI: 10.1016/j.ando.2010.02.023

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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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