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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...

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Detalles Bibliográficos
Autores principales: Brommage, Robert, Ohlsson, Claes
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2020
Materias:
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