Article
Genome-wide linkage, exome sequencing and functional analyses identify ABCB6 as the pathogenic gene of dyschromatosis universalis hereditaria.
PloS one - 1 Jan 2014
Liu Hong, Li Yi, Hung Ken Kwok Hon, Wang Na, Wang Chuan, Chen Xuechao, Sheng Donglai, Fu Xi'an, See Kelvin, Foo Jia Nee, Low Huiqi, Liany Herty, Irwan Ishak Darryl, Liu Jian, Yang Baoqi, Chen Mingfei, Yu Yongxiang, Yu Gongqi, Niu Guiye, You Jiabao, Zhou Yan, Ma Shanshan, Wang Ting, Yan Xiaoxiao, Goh Boon Kee, Common John E A, Lane Birgitte E, Sun Yonghu, Zhou Guizhi, Lu Xianmei, Wang Zhenhua, Tian Hongqing, Cao Yuanhua, Chen Shumin, Liu Qiji, Liu Jianjun, Zhang Furen
Abstract excerpt
BACKGROUND: As a genetic disorder of abnormal pigmentation, the molecular basis of dyschromatosis universalis hereditaria (DUH) had remained unclear until recently when ABCB6 was reported as a causative gene of DUH. METHODOLOGY: We performed genome-wide linkage scan using Illumina Human 660W-Quad BeadChip and exome sequencing analyses using Agilent SureSelect Human All Exon Kits in a multiplex Chinese DUH family...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.