Description of Joint Alterations Observed in a Family Carrying p.Asn453Ser COMP Variant: Clinical Phenotypes, In Silico Prediction of Functional Impact on COMP Protein and Stability, and Review of the Literature

The role of genetics in the development of osteoarthritis is well established but the molecular bases are not fully understood. Here, we describe a family carrying a germline mutation in COMP (Cartilage Oligomeric Matrix Protein) associated with three distinct phenotypes. The index case was enrolled...

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Detalles Bibliográficos
Autores principales: Rochoux, Quitterie, Sopkova-de Oliveira Santos, Jana, Marcelli, Christian, Rovelet-Lecrux, Anne, Chevallier, Virginie, Dutheil, Jean-Jacques, Leclercq, Sylvain, Boumédiene, Karim, Baugé, Catherine, Aury-Landas, Juliette
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8533395/
https://www.ncbi.nlm.nih.gov/pubmed/34680093
http://dx.doi.org/10.3390/biom11101460

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8533395/
https://www.ncbi.nlm.nih.gov/pubmed/34680093
http://dx.doi.org/10.3390/biom11101460

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