A Novel Form of Chondrocyte Stress is Triggered by a COMP Mutation Causing Pseudoachondroplasia

Pseudoachondroplasia (PSACH) results from mutations in cartilage oligomeric matrix protein (COMP) and the p.D469del mutation within the type III repeats of COMP accounts for approximately 30% of PSACH. To determine disease mechanisms of PSACH in vivo, we introduced the Comp D469del mutation into the...

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Detalles Bibliográficos
Autores principales: Suleman, Farhana, Gualeni, Benedetta, Gregson, Hannah J, Leighton, Matthew P, Piróg, Katarzyna A, Edwards, Sarah, Holden, Paul, Boot-Handford, Raymond P, Briggs, Michael D
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wiley Subscription Services, Inc., A Wiley Company 2012
Materias:
Research Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3320758/
https://www.ncbi.nlm.nih.gov/pubmed/22006726
http://dx.doi.org/10.1002/humu.21631

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