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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...

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Detalles Bibliográficos
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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2015
Materias:
RNA
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