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Impaired telomere maintenance in Alazami syndrome patients with LARP7 deficiency

BACKGROUND: Loss of function in genes required for telomere maintenance result in disorders known as telomeropathies, which are characterized by a pattern of symptoms including generalized and specific lymphocytopenias as well as very short telomere length and disease anticipation. METHODS: Because...

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Detalles Bibliográficos
Autores principales: Holohan, Brody, Kim, Wanil, Lai, Tsung-Po, Hoshiyama, Hirotoshi, Zhang, Ning, Alazami, Anas M., Wright, Woodring E., Meyn, M. Stephen, Alkuraya, Fowzan S., Shay, Jerry W.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2016
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5073984/
https://www.ncbi.nlm.nih.gov/pubmed/27766953
http://dx.doi.org/10.1186/s12864-016-3093-4