Genomic variations of the mevalonate pathway in porokeratosis

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: Zhenghua Zhang, Caihua Li, Fei Wu, Ruixiao Ma, Jing Luan, Feng Yang, Weida Liu, Li Wang, Shoumin Zhang, Yan Liu, Jun Gu, Wenlian Hua, Min Fan, Hua Peng, Xuemei Meng, Ningjing Song, Xinling Bi, Chaoying Gu, Zhen Zhang, Qiong Huang, Lianjun Chen, Leihong Xiang, Jinhua Xu, Zhizhong Zheng, Zhengwen Jiang
Format: Article
Language:English
Published: eLife Sciences Publications Ltd 2015-07-01
Series:eLife
Subjects:
porokeratosis
mevalonate pathway
genetic testing
Online Access:https://elifesciences.org/articles/06322

Internet

https://elifesciences.org/articles/06322

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