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-...

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Detalles Bibliográficos
Autores principales: Li, Pengyu, Wang, Anran, Li, Jiangxia, Li, Xi, Sun, Wenjie, Liu, Qiji
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Dove 2021
Materias:
Case Series
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

Internet

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

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