TINF2 mutations result in very short telomeres: analysis of a large cohort of patients with dyskeratosis congenita and related bone marrow failure syndromes

Dyskeratosis congenita (DC) is a multisystem bone marrow failure syndrome characterized by a triad of mucocutaneous abnormalities and a predisposition to cancer. The genetic basis of DC remains unknown in more than 60% of patients. Mutations have been identified in components of the telomerase compl...

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Detalles Bibliográficos
Autores principales: Walne, Amanda J., Vulliamy, Tom, Beswick, Richard, Kirwan, Michael, Dokal, Inderjeet
Formato: Texto
Lenguaje:English
Publicado: American Society of Hematology 2008
Materias:
Hematopoiesis and Stem Cells
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2572788/
https://www.ncbi.nlm.nih.gov/pubmed/18669893
http://dx.doi.org/10.1182/blood-2008-05-153445

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2572788/
https://www.ncbi.nlm.nih.gov/pubmed/18669893
http://dx.doi.org/10.1182/blood-2008-05-153445

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