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Knock-in human FGFR3 achondroplasia mutation as a mouse model for human skeletal dysplasia

Achondroplasia (ACH), the most common genetic dwarfism in human, is caused by a gain-of function mutation in fibroblast growth factor receptor 3 (FGFR3). Currently, there is no effective treatment for ACH. The development of an appropriate human-relevant model is important for testing potential ther...

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Detalles Bibliográficos
Autores principales: Lee, Yi-Ching, Song, I-Wen, Pai, Ya-Ju, Chen, Sheng-De, Chen, Yuan-Tsong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2017
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5322349/
https://www.ncbi.nlm.nih.gov/pubmed/28230213
http://dx.doi.org/10.1038/srep43220