Associated Papers
Mutations in the known genes are not the major cause of MED; distinctive phenotypic entities among patients with no identified mutations.
Jakkula E et al.
European Journal of Human Genetics : Ejhg, 2005
A recurrent R718W mutation in COMP results in multiple epiphyseal dysplasia with mild myopathy: clinical and pathogenetic overlap with collagen IX mutations.
Jakkula E et al.
Journal of Medical Genetics, 2003
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