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

Description of Joint Alterations Observed in a Family Carrying p.Asn453Ser <i>COMP</i> Variant: Clinical Phenotypes, In Silico Prediction of Functional Impact on <i>COMP</i> 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 <i>COMP</i> (<i>Cartilage Oligomeric Matrix Protein</i>) associated with three distinct p...

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Bibliographic Details
Main Authors: Quitterie Rochoux, Jana Sopkova-de Oliveira Santos, Christian Marcelli, Anne Rovelet-Lecrux, Virginie Chevallier, Jean-Jacques Dutheil, Sylvain Leclercq, Karim Boumédiene, Catherine Baugé, Juliette Aury-Landas
Format: Article
Language:English
Published: MDPI AG 2021-10-01
Series:Biomolecules
Subjects:
mutation
genetics
arthritis
osteoarthritis
<i>COMP</i>
dysplasia
Online Access:https://www.mdpi.com/2218-273X/11/10/1460

Internet

https://www.mdpi.com/2218-273X/11/10/1460

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