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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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| Veröffentlicht in: | Hum Mol Genet |
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| Hauptverfasser: | , , , , , , , , , , , , , , , |
| Format: | Artigo |
| Sprache: | Inglês |
| Veröffentlicht: |
Oxford University Press
2018
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| Schlagworte: | |
| Online Zugang: | 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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