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, Katalin, Deák Kocsis, Barbara, Cubells Sánchez, Laura, Martínez, Ana Mercedes Victoria, Corell, Juan José Vilata, Botella, Alfredo Montoro, Benito, Goitzane Marcaida, López, Raquel Rodríguez, Vanecek, Tomas, Kazakov, Dmitry V., Kromosoeto, Joan N. R, van den Ouweland, Ans M. W., Varga, János, Széll, Márta, Nagy, Nikoletta: 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.
BMC GENETICS , 17. Terjedelem: 6 p-Azonosító: 36. ISSN 1471-2156 (2016)

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Item Type: Article
Journal or Publication Title: BMC GENETICS
Date: 2016
Volume: 17
Page Range: Terjedelem: 6 p-Azonosító: 36
ISSN: 1471-2156
Faculty: Faculty of Medicine
Institution: Szegedi Tudományegyetem
MTMT id: 3018530
DOI id: https://doi.org/10.1186/s12863-016-0346-9
Date Deposited: 2016. May. 27. 21:59
Last Modified: 2019. Feb. 20. 15:03
URI: http://publicatio.bibl.u-szeged.hu/id/eprint/6894
Web of Science® Times Cited: 4 View citing articles in Web of Science®

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