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Heterogeneous spectrum of EXT gene mutations in Chinese patients with hereditary multiple osteochondromas

Hereditary multiple osteochondroma (HMO) is one of the most common genetic skeletal disorders. It is caused by mutations in either EXT1 or EXT2 resulting in abnormal skeletal growth and morphogenesis. However, the spectrum and frequency of EXT1 and EXT2 mutations in Chinese patients with HMO was not...

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Detalhes bibliográficos
Publicado no:Medicine (Baltimore)
Main Authors: Li, Yuchan, Wang, Jian, Tang, Jingyan, Wang, Zhigang, Han, Bingqiang, Li, Niu, Yu, Tingting, Chen, Yulin, Fu, Qihua
Formato: Artigo
Idioma:Inglês
Publicado em: Wolters Kluwer Health 2018
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6211902/
https://ncbi.nlm.nih.gov/pubmed/30334991
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1097/MD.0000000000012855
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