A novel mutation of CYLD gene in a Chinese family with multiple familial trichoepithelioma.

Tytuł:: A novel mutation of CYLD gene in a Chinese family with multiple familial trichoepithelioma.
Autorzy:: Qian F; Institute of Dermatology; Ministry of Education Key Laboratory of Dermatology, Hefei, Anhui, China.
Zhai Y
Yuan X
Li P
Wang W
Ding Y
Wang J
Wu B
Cheng H
Sun L
Yang S
Zhang X
Źródło:: The Australasian journal of dermatology [Australas J Dermatol] 2014 Aug; Vol. 55 (3), pp. 232-4.
Typ publikacji:: Case Reports; Letter; Research Support, Non-U.S. Gov't
Język:: English
Imprint Name(s):: Publication: New South Wales : Wiley-Blackwell
Original Publication: [Sydney] Australasian College of Dermatologists.
MeSH Terms:: Asian People/*genetics
Neoplastic Syndromes, Hereditary/*genetics
Skin Neoplasms/*genetics
Tumor Suppressor Proteins/*genetics
Case-Control Studies ; China ; Deubiquitinating Enzyme CYLD ; Female ; Frameshift Mutation ; Humans ; Male ; Pedigree ; Young Adult
Substance Nomenclature:: 0 (Tumor Suppressor Proteins)
EC 3.4.19.12 (CYLD protein, human)
EC 3.4.19.12 (Deubiquitinating Enzyme CYLD)
SCR Disease Name:: Familial cylindromatosis
Entry Date(s):: Date Created: 20140814 Date Completed: 20160210 Latest Revision: 20221207
Update Code:: 20240104
DOI:: 10.1111/ajd.12210
PMID:: 25117167
: Raport

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