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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שמור ב:
מידע ביבליוגרפי
הוצא לאור ב: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
פורמט: Artigo
שפה:Inglês
יצא לאור: eLife Sciences Publications, Ltd 2015
נושאים:
Human Biology and Medicine
גישה מקוונת: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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