Mild Myopathy Is Associated with COMP but Not MATN3 Mutations in Mouse Models of Genetic Skeletal Diseases

Pseudoachondroplasia (PSACH) and multiple epiphyseal dysplasia (MED) are skeletal disorders resulting from mutations in COMP, matrilin-3 or collagen IX and are characterised by short-limbed dwarfism and premature osteoarthritis. Interestingly, recent reports suggest patients can also manifest with m...

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Detalles Bibliográficos
Autores principales: Piróg, Katarzyna A., Katakura, Yoshihisa, Mironov, Aleksandr, Briggs, Michael D.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2013
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3842254/
https://www.ncbi.nlm.nih.gov/pubmed/24312420
http://dx.doi.org/10.1371/journal.pone.0082412

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3842254/
https://www.ncbi.nlm.nih.gov/pubmed/24312420
http://dx.doi.org/10.1371/journal.pone.0082412

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