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Article

Mutations and sequence variants in GDF9 and BMP15 in patients with premature ovarian failure.

European journal of endocrinology - 1 May 2006

Laissue Paul, Christin-Maitre Sophie, Touraine Philippe, Kuttenn Frederique, Ritvos Olli, Aittomaki Kristiina, Bourcigaux Nathalie, Jacquesson Laetitia, Bouchard Philippe, Frydman Rene, Dewailly Didier, Reyss Anne-Céline, Jeffery Luke, Bachelot Anne, Massin Nathalie, Fellous Marc, Veitia Reiner A

Abstract excerpt

BACKGROUND AND OBJECTIVE: Mutations in bone morphogenic protein 15 (BMP15) and growth/differentiation factor 9 (GDF9) lead to altered fertility in animal models. In the human, a heterozygous point mutation of BMP15 has been associated with premature ovarian failure (POF). SUBJECT AND METHODS: We have directly sequenced both genes in a cohort of 203 POF patients presenting with primary or secondary amenorrhea and...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 16645022
DOI: 10.1530/eje.1.02135

Genes

BMP15
GDF9

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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