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Characterization of a Novel Mutation in the NCSTN Gene in a Large Chinese Family with Acne Inversa.

Authors :
Shide Zhang
Jin Meng
Miao Jiang
Jingjun Zhao
Source :
Acta Dermato-Venereologica; Mar2016, Vol. 96 Issue 3, p408-409, 2p
Publication Year :
2016

Abstract

The article presents a case study of 4-generation Chinese family from Fujian, China with acne inversa (AI). It highlights the characterization of a novel mutation in the NCSTN Gene following the observed recurrent inflammatory papules, painful nodules and abscesses in their skins. It also emphasizes the effect of mutation p.A315V for developing AI in the family.

Details

Language :
English
ISSN :
00015555
Volume :
96
Issue :
3
Database :
Complementary Index
Journal :
Acta Dermato-Venereologica
Publication Type :
Academic Journal
Accession number :
113467056
Full Text :
https://doi.org/10.2340/00015555-2259