A recurrent R718W mutation in COMP results in multiple epiphyseal dysplasia with mild myopathy: clinical and pathogenetic overlap with collagen IX mutations (Q43074370)

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scientific article published in December 2003
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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
scientific article published in December 2003

    Statements

    A recurrent R718W mutation in COMP results in multiple epiphyseal dysplasia with mild myopathy: clinical and pathogenetic overlap with collagen IX mutations (English)
    1 reference
    Jakkula E
    1 reference
    Lohiniva J
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    Capone A
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    Bonafe L
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    Marti M
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    Schuster V
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    Giedion A
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    Eich G
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    Boltshauser E
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    Ala-Kokko L
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    Superti-Furga A
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    1 December 2003
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    40
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    12
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    942-948
    1 reference

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