Multiple epiphyseal dysplasia mutations in MATN3 cause misfolding of the A-domain and prevent secretion of mutant matrilin-3

Multiple epiphyseal dysplasia (MED) is a relatively common skeletal dysplasia that can present in childhood with a variable phenotype of short stature and pain and stiffness in the large joints, and often progresses to early-onset osteoarthritis in adulthood. Mutations in the matrilin-3 gene (MATN3)...

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Detalles Bibliográficos
Autores principales: Cotterill, Sally L, Jackson, Gail C, Leighton, Matthew P, Wagener, Raimund, Mäkitie, Outi, Cole, William G, Briggs, Michael D
Formato: Texto
Lenguaje:English
Publicado: Wiley Subscription Services, Inc., A Wiley Company 2005
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2726956/
https://www.ncbi.nlm.nih.gov/pubmed/16287128
http://dx.doi.org/10.1002/humu.20263

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2726956/
https://www.ncbi.nlm.nih.gov/pubmed/16287128
http://dx.doi.org/10.1002/humu.20263

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