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The CYLD p.R758X worldwide recurrent nonsense mutation detected in patients with multiple familial trichoepithelioma type 1, Brooke-Spiegler syndrome and familial cylindromatosis represents a mutational hotspot in the gene.
Farkas K, Deák BK, Sánchez LC, Martínez AM, Corell JJ, Botella AM, Benito GM, López RR, Vanecek T, Kazakov DV, Kromosoeto JN, van den Ouweland AM, Varga J, Széll M, Nagy N. Farkas K, et al. Among authors: benito gm. BMC Genet. 2016 Feb 9;17:36. doi: 10.1186/s12863-016-0346-9. BMC Genet. 2016. PMID: 26861065 Free PMC article.
Opportunities for improvement in anti-thrombotic therapy and other strategies for the management of acute coronary syndromes: Insights from EPICOR, an international study of current practice patterns.
Bueno H, Sinnaeve P, Annemans L, Danchin N, Licour M, Medina J, Pocock S, Sánchez-Covisa J, Storey RF, Jukema JW, Zeymer U, Van de Werf F; EPICOR Investigators. Bueno H, et al. Eur Heart J Acute Cardiovasc Care. 2016 Feb;5(1):3-12. doi: 10.1177/2048872614565912. Epub 2015 Jan 5. Eur Heart J Acute Cardiovasc Care. 2016. PMID: 25561688
Implantation of a biochemical and genetic screening programme for family hypercholesterolaemia. Collaboration between the clinical laboratory and lipid units: Design of the ARIAN Project.
Arrobas Velilla T, Brea Á, Valdivielso P; los investigadores del Proyecto ARIAN; Investigadores del proyecto ARA. Arrobas Velilla T, et al. Clin Investig Arterioscler. 2021 Nov-Dec;33(6):289-295. doi: 10.1016/j.arteri.2021.03.004. Epub 2021 Jun 3. Clin Investig Arterioscler. 2021. PMID: 34090714 English, Spanish.