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)