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TINF2, a Component of the Shelterin Telomere Protection Complex, Is Mutated in Dyskeratosis Congenita

Patients with dyskeratosis congenita (DC), a heterogeneous inherited bone marrow failure syndrome, have abnormalities in telomere biology, including very short telomeres and germline mutations in DKC1, TERC, TERT, or NOP10, but ∼60% of DC patients lack an identifiable mutation. With the very short t...

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Detalhes bibliográficos
Main Authors: Savage, Sharon A., Giri, Neelam, Baerlocher, Gabriela M., Orr, Nick, Lansdorp, Peter M., Alter, Blanche P.
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2008
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2427222/
https://ncbi.nlm.nih.gov/pubmed/18252230
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2007.10.004
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