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...

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Detalles Bibliográficos
Autores principales: Nenna, Raffaella, Turchetti, Arianna, Mastrogiorgio, Gerarda, Midulla, Fabio
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Dove 2019
Materias:
Review
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

Internet

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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