Novel Mutations of ABCB6 Associated with Autosomal Dominant Dyschromatosis Universalis Hereditaria

OBJECTIVE: Dyschromatosis universalis hereditaria (DUH) is a rare heterogeneous pigmentary genodermatosis, which was first described in 1933. The genetic cause has recently been discovered by the discovery of mutations in ABCB6. Here we investigated a Chinese family with typical features of autosoma...

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Detalhes bibliográficos
Main Authors: Cui, Ying-Xia, Xia, Xin-Yi, Zhou, Yang, Gao, Lin, Shang, Xue-Jun, Ni, Tong, Wang, Wei-Ping, Fan, Xiao-Buo, Yin, Hong-Lin, Jiang, Shao-Jun, Yao, Bing, Hu, Yu-An, Wang, Gang, Li, Xiao-Jun
Formato: Artigo
Idioma:Inglês
Publicado em: Public Library of Science 2013
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3818219/
https://ncbi.nlm.nih.gov/pubmed/24224009
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0079808
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