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...

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Detalles Bibliográficos
Autores principales: Parry, Erin M, Alder, Jonathan K, Lee, Stella S, Phillips, John A, Loyd, James E, Duggal, Priya, Armanios, Mary
Formato: Texto
Lenguaje:English
Publicado: BMJ Group 2011
Materias:
Telomere Biology
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

Internet

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

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