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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Bibliographic Details
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
Format: Online
Language:English
Published: eLife Sciences Publications, Ltd 2015
Online Access:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4511816/