Associated Papers
Multiple epiphyseal dysplasia mutations in MATN3 cause misfolding of the A-domain and prevent secretion of mutant matrilin-3.
Cotterill SL et al.
Human Mutation, 2005
Clinical and radiographic findings in multiple epiphyseal dysplasia caused by MATN3 mutations: description of 12 patients.
Mäkitie O et al.
American Journal of Medical Genetics. Part A, 2004
Missense mutations in the beta strands of the single A-domain of matrilin-3 result in multiple epiphyseal dysplasia.
Jackson GC et al.
Journal of Medical Genetics, 2004
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