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Article

BMP15 "knockout-like" effect in familial premature ovarian insufficiency with persistent ovarian reserve.

Clinical genetics - 1 Aug 2017

Mayer A, Fouquet B, Pugeat M, Misrahi M

Abstract excerpt

Premature ovarian insufficiency (POI) affects 1% to 2% of women under 40 years. Bone morphogenetic protein 15 (BMP15) variants have been described in POI. We studied a family with 2 sisters compound heterozygous for deletions in the BMP15 gene on chromosome Xp11.22 yielding a human "knockout-like" effect: a c.151_152delGA deletion yielded a p.Glu51IlefsTer27 mutation transmitted by the hemizygous father and a...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 28094433
DOI: 10.1111/cge.12970

Genes

BMP15
AMH

Variants

Provenance

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