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COL2A1 Mutation (c.611G>C) Leads to Early-Onset Osteoarthritis in a Chinese Family
Mutations in the gene coding collagen type II α1 chain (COL2A1) are associated with a series of human disorders mainly involving the skeletal system. Here, we describe the second family with COL2A1 mutation, c.611G>C, Gly204Ala, leading to a replacement of glycine in the core triple helical (Gly-...
| Autores principales: | , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Dove
2021
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8217077/ https://www.ncbi.nlm.nih.gov/pubmed/34168485 http://dx.doi.org/10.2147/IJGM.S310050 |