Genomic variations of the mevalonate pathway in porokeratosis

Porokeratosis (PK) is a heterogeneous group of keratinization disorders. No causal genes except MVK have been identified, even though the disease was linked to several genomic loci. Here, we performed massively parallel sequencing and exonic CNV screening of 12 isoprenoid genes in 134 index PK patie...

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Detalhes bibliográficos
Publicado no:eLife
Main Authors: Zhang, Zhenghua, Li, Caihua, Wu, Fei, Ma, Ruixiao, Luan, Jing, Yang, Feng, Liu, Weida, Wang, Li, Zhang, Shoumin, Liu, Yan, Gu, Jun, Hua, Wenlian, Fan, Min, Peng, Hua, Meng, Xuemei, Song, Ningjing, Bi, Xinling, Gu, Chaoying, Zhang, Zhen, Huang, Qiong, Chen, Lianjun, Xiang, Leihong, Xu, Jinhua, Zheng, Zhizhong, Jiang, Zhengwen
Formato: Artigo
Idioma:Inglês
Publicado em: eLife Sciences Publications, Ltd 2015
Assuntos:
Human Biology and Medicine
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4511816/
https://ncbi.nlm.nih.gov/pubmed/26202976
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.7554/eLife.06322
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