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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
- Correspondence to: Professor A Superti-Furga Division of Molecular Paediatrics, Centre Hospitalier Universitaire Vaudois, Rue du Bugnon 46, CH-1011 Lausanne, Switzerland; asupertichuv.unil.ch
Citation
A recurrent R718W mutation in COMP results in multiple epiphyseal dysplasia with mild myopathy: clinical and pathogenetic overlap with collagen IX mutations
Publication history
- First published December 18, 2003.
Online issue publication
April 27, 2016
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Copyright 2003 Journal of Medical Genetics