Novel mutation of EXT2 identified in a large family with multiple osteochondromas

Multiple osteochondromas (MO), also known as hereditary multiple exostoses, is an autosomal dominant bone disorder. Mutations in exostosin glycosyl transferase-1 (EXT1) and exostosin glycosyl transferase-2 (EXT2), including missense, nonsense, frameshift and splice-site mutations, account for up to...

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Detalles Bibliográficos
Autores principales: Chen, Xiao-Jun, Zhang, Hong, Tan, Zhi-Ping, Hu, Wen, Yang, Yi-Feng
Formato: Online Artículo Texto
Lenguaje:English
Publicado: D.A. Spandidos 2016
Materias:
Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5102042/
https://www.ncbi.nlm.nih.gov/pubmed/27748933
http://dx.doi.org/10.3892/mmr.2016.5814

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5102042/
https://www.ncbi.nlm.nih.gov/pubmed/27748933
http://dx.doi.org/10.3892/mmr.2016.5814

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