TY  - JOUR 
AU  - Felipe-Medina, Natalia
AU  - Caburet, Sandrine
AU  - Sánchez Sáez, Fernando
AU  - Condezo, Yazmine B
AU  - de Rooij, Dirk G
AU  - Gómez-H, Laura
AU  - Garcia-Valiente, Rodrigo
AU  - Todeschini, Anne Laure
AU  - Duque, Paloma
AU  - Sánchez Martín, Manuel Adolfo
AU  - Shalev, Stavit A
AU  - Llano Cuadra, María Elena
AU  - Veitia, Reiner A
AU  - Pendás, Alberto M.
PY  - 2020
UR  - http://hdl.handle.net/10366/168742
AB  - [EN]Primary Ovarian Insufficiency (POI) is a major cause of infertility, but its etiology remains poorly understood. Using whole-exome sequencing in a family with three cases of POI, we identified the candidate missense variant S167L in HSF2BP, an...
LA  - eng
KW  - meiosis POI
KW  - Meiosis
KW  - Mutation
KW  - Primary Ovarian Insufficiency
KW  - Animals
KW  - Rad51 Recombinase
KW  - DNA-Binding Proteins
KW  - Mice
TI  - A missense in HSF2BP causing primary ovarian insufficiency affects meiotic recombination by its novel interactor C19ORF57/BRME1
DO  - 10.7554/eLife.56996
T2  - eLife
VL  - 9
ER  -