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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Detalles Bibliográficos
Autores principales: 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: Online Artículo Texto
Lenguaje:English
Publicado: eLife Sciences Publications, Ltd 2015
Materias:
Human Biology and Medicine
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4511816/
https://www.ncbi.nlm.nih.gov/pubmed/26202976
http://dx.doi.org/10.7554/eLife.06322

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