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Mutations in the telomerase component NHP2 cause the premature ageing syndrome dyskeratosis congenita
Dyskeratosis congenita is a premature aging syndrome characterized by muco-cutaneous features and a range of other abnormalities, including early greying, dental loss, osteoporosis, and malignancy. Dyskeratosis congenita cells age prematurely and have very short telomeres. Patients have mutations in...
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| Autors principals: | , , , , , , |
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| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
National Academy of Sciences
2008
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2430361/ https://ncbi.nlm.nih.gov/pubmed/18523010 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1073/pnas.0800042105 |
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