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Additional file 1: of 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
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posted on 2016-02-09, 05:00 authored by Katalin Farkas, Barbara Deák, Laura Sánchez, Ana Martínez, Juan Corell, Alfredo Botella, Goitzane Benito, Raquel López, Tomas Vanecek, Dmitry Kazakov, Joan Kromosoeto, Ans van den Ouweland, János Varga, Márta Széll, Nikoletta NagySequencing data of Patient III/1 demonstrated the same heterozygous mutation, which has been detected in case of Patient II/2. (JPG 163 kb)
