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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...
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| Gepubliceerd in: | Hum Mol Genet |
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| Hoofdauteurs: | , , , , , , , , , , , , , , , |
| Formaat: | Artigo |
| Taal: | Inglês |
| Gepubliceerd in: |
Oxford University Press
2018
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| Onderwerpen: | |
| Online toegang: | 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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