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High Fidelity of Mouse Models Mimicking Human Genetic Skeletal Disorders
The 2019 International Skeletal Dysplasia Society nosology update lists 441 genes for which mutations result in rare human skeletal disorders. These genes code for enzymes (33%), scaffolding proteins (18%), signal transduction proteins (16%), transcription factors (14%), cilia proteins (8%), extrace...
Autores principales: | , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Frontiers Media S.A.
2020
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Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7010808/ https://www.ncbi.nlm.nih.gov/pubmed/32117046 http://dx.doi.org/10.3389/fendo.2019.00934 |