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

@article{Williams1993SpondyloepiphysealDA,
  title={Spondyloepiphyseal dysplasia and precocious osteoarthritis in a family with an Arg75→Cys mutation in the procollagen type II gene (COL2A1)},
  author={Charlene J. Williams and Eileen L. Considine and Robert G. Knowlton and Antonio J. Reginato and Guillermo Neumann and David G Harrison and Paul Buxton and Sergio Jim{\'e}nez and D. J. Prockop},
  journal={Human Genetics},
  year={1993},
  volume={92},
  pages={499-505}
}
Direct sequencing of polymerase chain reaction (PCR)-amplified genomic DNA from a patient with spondyloepiphyseal dysplasia and precocious osteoarthritis revealed a single-base change in exon 11 of the type II procollagen gene (COL2A1), which produces an Arg→ Cys mutation in one allele. The proband is a member of a large Chilean kindred presenting with chondrodysplasia of the hips, knees, shoulders, elbows, and spine associated with severe, early-onset osteoarthritis. All affected individuals… CONTINUE READING
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