A missense mutation in the SEDL gene results in delayed onset of X linked spondyloepiphyseal dysplasia in a large pedigree (Q24680215)

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A missense mutation in the SEDL gene results in delayed onset of X linked spondyloepiphyseal dysplasia in a large pedigree
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    A missense mutation in the SEDL gene results in delayed onset of X linked spondyloepiphyseal dysplasia in a large pedigree (English)
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    E Grunebaum
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    E Arpaia
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    J J MacKenzie
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    J Fitzpatrick
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    P N Ray
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    C M Roifman
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    June 2001
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    38
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    6
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    409-11
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