Analysis of POFUT1 gene mutation in a Chinese family with Dowling-Degos disease.

by Mingfei Chen, Yi Li, Hong Liu, Xi'an Fu, Yiongxiang Yu, Gongqi Yu, Chuan Wang, Fangfang Bao, Herty Liany, Zhenzhen Wang, Zhongxiang Shi, Dizhan Zhang, Guizhi Zhou, Jianjun Liu, Furen Zhang
Published 2014-01-01

Genome-wide linkage, exome sequencing and functional analyses identify ABCB6 as the pathogenic gene of dyschromatosis universalis hereditaria.

by Hong Liu, Yi Li, Ken Kwok Hon Hung, Na Wang, Chuan Wang, Xuechao Chen, Donglai Sheng, Xi'an Fu, Kelvin See, Jia Nee Foo, Huiqi Low, Herty Liany, Ishak Darryl Irwan, Jian Liu, Baoqi Yang, Mingfei Chen, Yongxiang Yu, Gongqi Yu, Guiye Niu, Jiabao You, Yan Zhou, Shanshan Ma, Ting Wang, Xiaoxiao Yan, Boon Kee Goh, John E A Common, Birgitte E Lane, Yonghu Sun, Guizhi Zhou, Xianmei Lu, Zhenhua Wang, Hongqing Tian, Yuanhua Cao, Shumin Chen, Qiji Liu, Jianjun Liu, Furen Zhang
Published 2014-01-01