Identification of a novel mutation in the EXT1 gene from a patient with multiple osteochondromas by exome sequencing

Multiple osteochondromas (MO) is an autosomal skeletal disease with an elusive molecular mechanism. To further elucidate the genetic mechanism of the disease a three-generation Chinese family with MO was observed and researched, and a novel frameshift mutation (c.335_336insA) in the exotosin 1 (EXT1...

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Detalles Bibliográficos
Autores principales: Hong, Guolin, Guo, Xiaoyan, Yan, Wei, Li, Qianqian, Zhao, Hailing, Ma, Ping, Hu, Xiao
Formato: Online Artículo Texto
Lenguaje:English
Publicado: D.A. Spandidos 2017
Materias:
Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5364847/
https://www.ncbi.nlm.nih.gov/pubmed/28035357
http://dx.doi.org/10.3892/mmr.2016.6086

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5364847/
https://www.ncbi.nlm.nih.gov/pubmed/28035357
http://dx.doi.org/10.3892/mmr.2016.6086

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