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Decreased dyskerin levels as a mechanism of telomere shortening in X-linked dyskeratosis congenita
Dyskeratosis congenita (DC) is a premature ageing syndrome characterised by short telomeres. An X-linked form of DC is caused by mutations in DKC1 which encodes dyskerin, a telomerase component that is essential for telomerase RNA stability. However, mutations in DKC1 are identifiable in only half o...
| Autores principales: | , , , , , , |
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| Formato: | Texto |
| Lenguaje: | English |
| Publicado: |
BMJ Group
2011
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3088476/ https://www.ncbi.nlm.nih.gov/pubmed/21415081 http://dx.doi.org/10.1136/jmg.2010.085100 |