Identification of a novel EXT1 mutation in patients with hereditary multiple exostosis by exome sequencing

Hereditary multiple exostosis (HME) is an autosomal inherited skeletal disease whose etiology is not fully understood. To further understand the genetic spectrum of the disease, we analyzed a five-generation Chinese family with HME that have observable inheritance. Exome sequencing was performed on...

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Publicado no:Oncol Rep
Main Authors: LIU, HONGJIE, WU, SONG, DUAN, LI, ZHU, WEIMING, ZHANG, SHIQUAN, HU, XIAOXIAO, JIA, WENLONG, YANG, GUOSHENG, LIU, CHUNXIAO, LI, WEIPING, YANG, LEI, GUO, LIJUN, LIN, YOUCHENG, WANG, YONGQIANG, HE, MEIJIAN, YANG, ZHAO, HE, YINGYING, CAI, ZHIMING, WANG, DAPING
Formato: Artigo
Idioma:Inglês
Publicado em: D.A. Spandidos 2015
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Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4306274/
https://ncbi.nlm.nih.gov/pubmed/25421355
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3892/or.2014.3610
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