A recurrent R718W mutation in COMP results in multiple epiphyseal dysplasia with mild myopathy: clinical and pathogenetic overlap with collagen IX mutations.
Publication/Presentation Date
12-1-2003
Volume
40
Issue
12
First Page
942
Last Page
948
ISSN
1468-6244
Published In/Presented At
Jakkula, E., Lohiniva, J., Capone, A., Bonafe, L., Marti, M., Schuster, V., Giedion, A., Eich, G., Boltshauser, E., Ala-Kokko, L., & Superti-Furga, A. (2003). A recurrent R718W mutation in COMP results in multiple epiphyseal dysplasia with mild myopathy: clinical and pathogenetic overlap with collagen IX mutations. Journal of medical genetics, 40(12), 942–948. https://doi.org/10.1136/jmg.40.12.942
Disciplines
Medicine and Health Sciences
PubMedID
14684695
Department(s)
Department of Pathology and Laboratory Medicine
Document Type
Article
COinS