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COL2A1 Gene Mutations: Mechanisms of Spondyloepiphyseal Dysplasia Congenita
The COL2A1 gene consists of 54 exons spanning over 31.5 kb and encodes for type II collagen. Type II collagen is the main component of hyaline cartilage extracellular matrix, nucleus pulposus of intervertebral discus, vitreous humor of the eye and inner ear structure. Molecular defects in COL2A1 gen...
Autores principales: | Nenna, Raffaella, Turchetti, Arianna, Mastrogiorgio, Gerarda, Midulla, Fabio |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Dove
2019
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6900288/ https://www.ncbi.nlm.nih.gov/pubmed/31824186 http://dx.doi.org/10.2147/TACG.S197205 |
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