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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Autores principales: Zhang, Feng, Liang, Jinlong, Guo, Xiong, Zhang, Yingang, Wen, Yan, Li, Qiang, Zhang, Zengtie, Ma, Weijuan, Dai, Lanlan, Liu, Xuanzhu, Yang, Ling, Wang, Jun
Formato: Artigo
Lenguaje:Inglês
Publicado: Public Library of Science 2013
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Research Article
Acceso en línea: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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