Dominant negative mutations in the C-propeptide of COL2A1 cause platyspondylic lethal skeletal dysplasia, torrance type, and define a novel subfamily within the type 2 collagenopathies (Q28302010)

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Dominant negative mutations in the C-propeptide of COL2A1 cause platyspondylic lethal skeletal dysplasia, torrance type, and define a novel subfamily within the type 2 collagenopathies
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    Dominant negative mutations in the C-propeptide of COL2A1 cause platyspondylic lethal skeletal dysplasia, torrance type, and define a novel subfamily within the type 2 collagenopathies (English)
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    Andreas Zankl
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    Jaako Ignatius
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    Peter Nikkels
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    Connie Schrander-Stumpel
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    Michael Wright
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    Katja Hilbert
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    Juergen Spranger
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    Bernhard Zabel
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    15 February 2005
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    133A
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    61-7
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    1
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