Eileen L. Considine

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

S. Jimenez, D. Prockop, R. Knowlton, 1993, Human Genetics.

Five families with arginine519‐cysteine mutation in COL2A1: Evidence for three distinct founders

R. Moskowitz, M. Devoto, D. Prockop, 1998, Human mutation.