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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Опубликовано в: :Oncol Rep
Главные авторы: 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
Формат: Artigo
Язык:Inglês
Опубликовано: D.A. Spandidos 2015
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Articles
Online-ссылка: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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