Spondyloepiphyseal dysplasia and precocious osteoarthritis in a family with an Arg75→Cys mutation in the procollagen type II gene (COL2A1)

Charlene J. Williams, Eileen L. Considine, Robert G. Knowlton, Antonio Reginato, Guillermo Neumann, David Harrison, Paul Buxton, Sergio Jimenez, Darwin J. Prockop

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Biochemistry, Genetics and Molecular Biology