A recurrent R936X mutation of CYLD gene in a Chinese family with multiple familial trichoepithelioma.
Qi-Guo
QG
Zhang
Department of Dermatology, Nanfang Hospital, Southern Medical University, Guangzhou, Guangdong 510515, China.
Yan-Hua
YH
Liang
D044466:Asian People / Q000235:genetics*; D018389:Codon, Nonsense / Q000235:genetics*; D000074749:Deubiquitinating Enzyme CYLD; D005260:Female; D006801:Humans; D009386:Neoplastic Syndromes, Hereditary / Q000175:diagnosis* / Q000235:genetics*; D012878:Skin Neoplasms / Q000175:diagnosis* / Q000235:genetics*; D025521:Tumor Suppressor Proteins / Q000235:genetics*
D018389:Codon, Nonsense; D025521:Tumor Suppressor Proteins; C409984:CYLD protein, human; D000074749:Deubiquitinating Enzyme CYLD