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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: Vulliamy, Tom, Beswick, Richard, Kirwan, Michael, Marrone, Anna, Digweed, Martin, Walne, Amanda, Dokal, Inderjeet
Format: Artigo
Idioma:Inglês
Publicat: National Academy of Sciences 2008
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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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