Identification of Novel EXT Mutations in Patients with Hereditary Multiple Exostoses Using Whole‐Exome Sequencing

OBJECTIVE: To find novel potential gene mutations other than EXT1 and EXT2 mutations, to expand the mutational spectrum of EXT and to explore the correlation between clinical outcome and genotype in patients with hereditary multiple exostoses (HME). METHODS: The study recruited seven families diagno...

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Detalles Bibliográficos
Autores principales: Liang, Chao, Wang, Yong‐jie, Wei, Yu‐xuan, Dong, Yang, Zhang, Zhi‐chang
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons Australia, Ltd 2020
Materias:
Scientific Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7307237/
https://www.ncbi.nlm.nih.gov/pubmed/32293802
http://dx.doi.org/10.1111/os.12660

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