Mutations in the mitochondrial ribosomal protein MRPS22 lead to primary ovarian insufficiency

Primary ovarian insufficiency (POI) is characterized by amenorrhea and loss or dysfunction of ovarian follicles prior to the age of 40. POI has been associated with autosomal recessive mutations in genes involving hormonal signaling and folliculogenesis, however, the genetic etiology of POI most oft...

Πλήρης περιγραφή

Αποθηκεύτηκε σε:
Λεπτομέρειες βιβλιογραφικής εγγραφής
Τόπος έκδοσης:Hum Mol Genet
Κύριοι συγγραφείς: Chen, Anlu, Tiosano, Dov, Guran, Tulay, Baris, Hagit N, Bayram, Yavuz, Mory, Adi, Shapiro-Kulnane, Laura, Hodges, Craig A, Akdemir, Zeynep C, Turan, Serap, Jhangiani, Shalini N, van den Akker, Focco, Hoppel, Charles L, Salz, Helen K, Lupski, James R, Buchner, David A
Μορφή: Artigo
Γλώσσα:Inglês
Έκδοση: Oxford University Press 2018
Θέματα:
Articles
Διαθέσιμο Online:https://ncbi.nlm.nih.gov/pmc/articles/PMC5961111/
https://ncbi.nlm.nih.gov/pubmed/29566152
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddy098
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