A single base mutation in the type II procollagen gene (COL2A1) that converts glycine α1‐247 to serine in a family with late‐onset spondyloepiphyseal dysplasia

P. Ritvaniemi, B. P. Sokolov, C. J. Williams, E. Considine, L. Yurgenev, E. M. Meerson, L. Ala‐Kokko, D. J. Prockop

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Medicine & Life Sciences