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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...
Autores principales: | , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Nature Publishing Group
2017
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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 |