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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

✍ Scribed by Andreas Zankl; Luitgard Neumann; Jaako Ignatius; Peter Nikkels; Connie Schrander-Stumpel; Geert Mortier; Heymut Omran; Michael Wright; Katja Hilbert; Luisa Bonafé; Juergen Spranger; Bernhard Zabel; Andrea Superti-Furga


Publisher
John Wiley and Sons
Year
2005
Tongue
English
Weight
264 KB
Volume
133A
Category
Article
ISSN
1552-4825

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