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...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Prif Awduron: Zhang, Feng, Liang, Jinlong, Guo, Xiong, Zhang, Yingang, Wen, Yan, Li, Qiang, Zhang, Zengtie, Ma, Weijuan, Dai, Lanlan, Liu, Xuanzhu, Yang, Ling, Wang, Jun
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: Public Library of Science 2013
Pynciau:
Research Article
Mynediad Ar-lein: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
Tagiau: Ychwanegu Tag
Dim Tagiau, Byddwch y cyntaf i dagio'r cofnod hwn!

Eitemau Tebyg