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Article

AMH mutations with reduced in vitro bioactivity are related to premature ovarian insufficiency.

Human reproduction (Oxford, England) - 1 May 2015

Alvaro Mercadal B, Imbert R, Demeestere I, Gervy C, De Leener A, Englert Y, Costagliola S, Delbaere A

Abstract excerpt

STUDY QUESTION: Could anti-Müllerian hormone (AMH) mutations be implicated in the development of idiopathic premature ovarian insufficiency (POI)? SUMMARY ANSWER: Three rare or unknown missense variants of the AMH gene were identified in a cohort of 55 POI patients; all three variants showed a drastically reduced in vitro bioactivity. WHAT IS KNOWN ALREADY: Genetic factors are implicated in 5-15% of cases of POI....

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 25750103
DOI: 10.1093/humrep/dev042

Genes

AMH
AMHR2
FMR1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

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