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 and Deák Kocsis Barbara and Cubells Sánchez Laura and Martínez Ana Mercedes Victoria and Corell Juan José Vilata and Botella Alfredo Montoro and Benito Goitzane Marcaida and López Raquel Rodríguez and Vanecek Tomas and Kazakov Dmitry V. and Kromosoeto Joan N. R and van den Ouweland Ans M. W. and Varga János and Széll Márta and 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: Journal Article
Journal or Publication Title: BMC GENETICS
Date: 2016
Volume: 17
Page Range: Terjedelem: 6 p-Azonosító: 36
ISSN: 1471-2156
Faculty/Unit: Faculty of Medicine
Institution: Szegedi Tudományegyetem
Language: English
MTMT rekordazonosító: 3018530
DOI azonosító: 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: 6 View citing articles in Web of Science®

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