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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
  1. 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
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Citation

Jakkula E, Lohiniva J, Capone A, et al
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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