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Poly(A)-specific ribonuclease deficiency impacts telomere biology and causes dyskeratosis congenita
Dyskeratosis congenita (DC) and related syndromes are inherited, life-threatening bone marrow (BM) failure disorders, and approximately 40% of cases are currently uncharacterized at the genetic level. Here, using whole exome sequencing (WES), we have identified biallelic mutations in the gene encodi...
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| 發表在: | J Clin Invest |
|---|---|
| Main Authors: | , , , , , , , , , , , , |
| 格式: | Artigo |
| 語言: | Inglês |
| 出版: |
American Society for Clinical Investigation
2015
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| 主題: | |
| 在線閱讀: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4463202/ https://ncbi.nlm.nih.gov/pubmed/25893599 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1172/JCI78963 |
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