Mutations in STN1 cause Coats plus syndrome and are associated with genomic and telomere defects

The analysis of individuals with telomere defects may shed light on the delicate interplay of factors controlling genome stability, premature aging, and cancer. We herein describe two Coats plus patients with telomere and genomic defects; both harbor distinct, novel mutations in STN1, a member of th...

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Detalles Bibliográficos
Autores principales: Simon, Amos J., Lev, Atar, Zhang, Yong, Weiss, Batia, Rylova, Anna, Eyal, Eran, Kol, Nitzan, Barel, Ortal, Cesarkas, Keren, Soudack, Michalle, Greenberg-Kushnir, Noa, Rhodes, Michele, Wiest, David L., Schiby, Ginette, Barshack, Iris, Katz, Shulamit, Pras, Elon, Poran, Hana, Reznik-Wolf, Haike, Ribakovsky, Elena, Simon, Carlos, Hazou, Wadi, Sidi, Yechezkel, Lahad, Avishay, Katzir, Hagar, Sagie, Shira, Aqeilan, Haifa A., Glousker, Galina, Amariglio, Ninette, Tzfati, Yehuda, Selig, Sara, Rechavi, Gideon, Somech, Raz
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Rockefeller University Press 2016
Materias:
Research Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4986528/
https://www.ncbi.nlm.nih.gov/pubmed/27432940
http://dx.doi.org/10.1084/jem.20151618

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