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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Detalles Bibliográficos
Autores principales: 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: Online Artículo Texto
Lenguaje:English
Publicado: D.A. Spandidos 2015
Materias:
Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4306274/
https://www.ncbi.nlm.nih.gov/pubmed/25421355
http://dx.doi.org/10.3892/or.2014.3610

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