Genome-Wide Linkage, Exome Sequencing and Functional Analyses Identify ABCB6 as the Pathogenic Gene of Dyschromatosis Universalis Hereditaria

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 Be...

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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2014
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3911924/
https://www.ncbi.nlm.nih.gov/pubmed/24498303
http://dx.doi.org/10.1371/journal.pone.0087250

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