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A Recurrent R718W Mutation in COMP Results in Multiple Epiphyseal Dysplasia With Mild Myopathy: Clinical and Pathogenetic Overlap With Collagen IX Mutations
Journal of Medical Genetics
- United Kingdom
doi 10.1136/jmg.40.12.942
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Abstract
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Categories
Genetics
Date
December 1, 2003
Authors
E Jakkula
Publisher
BMJ