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    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. http://access.bl.uk/ark:/81055/vdc_100135151629.0x00003d