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Human regulator of telomere elongation helicase 1 (RTEL1) is required for the nuclear and cytoplasmic trafficking of pre-U2 RNA
Hoyeraal-Hreidarsson syndrome (HHS) is a severe form of Dyskeratosis congenita characterized by developmental defects, bone marrow failure and immunodeficiency and has been associated with telomere dysfunction. Recently, mutations in Regulator of Telomere ELongation helicase 1 (RTEL1), a helicase fi...
Autores principales: | Schertzer, Michael, Jouravleva, Karina, Perderiset, Mylene, Dingli, Florent, Loew, Damarys, Le Guen, Tangui, Bardoni, Barbara, de Villartay, Jean-Pierre, Revy, Patrick, Londoño-Vallejo, Arturo |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Oxford University Press
2015
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4330364/ https://www.ncbi.nlm.nih.gov/pubmed/25628358 http://dx.doi.org/10.1093/nar/gku1402 |
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