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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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Main Authors: Walne, Amanda J., Vulliamy, Tom, Beswick, Richard, Kirwan, Michael, Dokal, Inderjeet
Format: Artigo
Jezik:Inglês
Izdano: American Society of Hematology 2008
Teme:
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC2572788/
https://ncbi.nlm.nih.gov/pubmed/18669893
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1182/blood-2008-05-153445
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