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. 2003 Dec;40(12):942–948. doi: 10.1136/jmg.40.12.942

A recurrent R718W mutation in COMP results in multiple epiphyseal dysplasia with mild myopathy: clinical and pathogenetic overlap with collagen IX mutations

E Jakkula, J Lohiniva, A Capone, L Bonafe, M Marti, V Schuster, A Giedion, G Eich, E Boltshauser, L Ala-Kokko, A Superti-Furga
PMCID: PMC1735347  PMID: 14684695

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