Exome Sequencing and Functional Analysis Identifies a Novel Mutation in EXT1 Gene That Causes Multiple Osteochondromas

Multiple osteochondromas (MO) is an inherited skeletal disorder, and the molecular mechanism of MO remains elusive. Exome sequencing has high chromosomal coverage and accuracy, and has recently been successfully used to identify pathogenic gene mutations. In this study, exome sequencing followed by...

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Bibliografski detalji
Glavni autori: Zhang, Feng, Liang, Jinlong, Guo, Xiong, Zhang, Yingang, Wen, Yan, Li, Qiang, Zhang, Zengtie, Ma, Weijuan, Dai, Lanlan, Liu, Xuanzhu, Yang, Ling, Wang, Jun
Format: Artigo
Jezik:Inglês
Izdano: Public Library of Science 2013
Teme:
Research Article
Online pristup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3757002/
https://ncbi.nlm.nih.gov/pubmed/24009674
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0072316
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