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Chemical inhibition of PAPD5/7 rescues telomerase function and hematopoiesis in dyskeratosis congenita
Dyskeratosis congenita (DC) is a pediatric bone marrow failure syndrome caused by germline mutations in telomere biology genes. Mutations in DKC1 (the most commonly mutated gene in DC), the 3′ region of TERC, and poly(A)-specific ribonuclease (PARN) cause reduced levels of the telomerase RNA compone...
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| Vydáno v: | Blood Adv |
|---|---|
| Hlavní autoři: | , , , , |
| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
American Society of Hematology
2020
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| Témata: | |
| On-line přístup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7322949/ https://ncbi.nlm.nih.gov/pubmed/32559291 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1182/bloodadvances.2020001848 |
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