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Syndrome complex of bone marrow failure and pulmonary fibrosis predicts germline defects in telomerase
Mutations in the essential telomerase components hTERT and hTR cause dyskeratosis congenita, a bone marrow failure syndrome characterized by mucocutaneous features. Some (∼ 3%) sporadic aplastic anemia (AA) and idiopathic pulmonary fibrosis cases also carry mutations in hTERT and hTR. Even though it...
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| Autori principali: | , , , , |
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| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
American Society of Hematology
2011
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| Soggetti: | |
| Accesso online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3110022/ https://ncbi.nlm.nih.gov/pubmed/21436073 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1182/blood-2010-11-322149 |
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