A homozygous FANCM mutation underlies a familial case of non-syndromic primary ovarian insufficiency

Primary Ovarian Insufficiency (POI) affects ~1% of women under forty. Exome sequencing of two Finnish sisters with non-syndromic POI revealed a homozygous mutation in FANCM, leading to a truncated protein (p.Gln1701*). FANCM is a DNA-damage response gene whose heterozygous mutations predispose to br...

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Detalles Bibliográficos
Autores principales: Fouquet, Baptiste, Pawlikowska, Patrycja, Caburet, Sandrine, Guigon, Celine, Mäkinen, Marika, Tanner, Laura, Hietala, Marja, Urbanska, Kaja, Bellutti, Laura, Legois, Bérangère, Bessieres, Bettina, Gougeon, Alain, Benachi, Alexandra, Livera, Gabriel, Rosselli, Filippo, Veitia, Reiner A, Misrahi, Micheline
Formato: Online Artículo Texto
Lenguaje:English
Publicado: eLife Sciences Publications, Ltd 2017
Materias:
Human Biology and Medicine
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5764568/
https://www.ncbi.nlm.nih.gov/pubmed/29231814
http://dx.doi.org/10.7554/eLife.30490

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