A recurrent R718W mutation in COMP results in multiple epiphyseal dysplasia with mild myopathy: clinical and pathogenetic overlap with collagen IX mutations
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L. Ala‐Kokko | E. Boltshauser | E. Jakkula | A. Superti-Furga | L. Bonafė | V. Schuster | A. Giedion | G. Eich | J. Lohiniva | A. Capone | M. Marti | L. Ala‐kokko