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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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Description scientific article
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author: Geert Mortier  Luisa Bonafé  Andrea Superti-Furga  Luitgard Graul-Neumann  Heymut Omran 

Publication date February 15, 2005
Language English
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