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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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Main Authors: | , , , , , |
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Formato: | Artigo |
Idioma: | Inglês |
Publicado em: |
Elsevier
2008
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Assuntos: | |
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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