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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Veröffentlicht in:eLife
Hauptverfasser: 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
Format: Artigo
Sprache:Inglês
Veröffentlicht: eLife Sciences Publications, Ltd 2015
Schlagworte:
Human Biology and Medicine
Online Zugang: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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