High Fidelity of Mouse Models Mimicking Human Genetic Skeletal Disorders

Volume: 10
Published: Feb 4, 2020
Abstract
The 2015 International Skeletal Dysplasia Society nosology update identified 318 genes for which mutations result in rare human skeletal disorders. Together with an additional 76 genes identified by manual curation, these 394 genes code for enzymes (33%), signal transduction proteins (16%), transcription factors (15%), scaffolding proteins (15%), cilia proteins (9%), extracellular matrix proteins (6%), and membrane transporters (5%). There are...
Paper Details
Title
High Fidelity of Mouse Models Mimicking Human Genetic Skeletal Disorders
Published Date
Feb 4, 2020
Volume
10
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