PATL2 is a key actor of oocyte maturation whose invalidation causes infertility in women and mice

The genetic causes of oocyte meiotic deficiency (OMD), a form of primary infertility characterised by the production of immature oocytes, remain largely unexplored. Using whole exome sequencing, we found that 26% of a cohort of 23 subjects with OMD harboured the same homozygous nonsense pathogenic m...

詳細記述

保存先:
書誌詳細
出版年:EMBO Mol Med
主要な著者: Christou‐Kent, Marie, Kherraf, Zine‐Eddine, Amiri‐Yekta, Amir, Le Blévec, Emilie, Karaouzène, Thomas, Conne, Béatrice, Escoffier, Jessica, Assou, Said, Guttin, Audrey, Lambert, Emeline, Martinez, Guillaume, Boguenet, Magalie, Fourati Ben Mustapha, Selima, Cedrin Durnerin, Isabelle, Halouani, Lazhar, Marrakchi, Ouafi, Makni, Mounir, Latrous, Habib, Kharouf, Mahmoud, Coutton, Charles, Thierry‐Mieg, Nicolas, Nef, Serge, Bottari, Serge P, Zouari, Raoudha, Issartel, Jean Paul, Ray, Pierre F, Arnoult, Christophe
フォーマット: Artigo
言語:Inglês
出版事項: John Wiley and Sons Inc. 2018
主題:
Research Articles
オンライン･アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC5938616/
https://ncbi.nlm.nih.gov/pubmed/29661911
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.15252/emmm.201708515
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