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Mutations That Alter the Carboxy‐Terminal‐Propeptide Cleavage Site of the Chains of Type I Procollagen Are Associated With a Unique Osteogenesis Imperfecta Phenotype
Authors:Tim Cundy  Michael Dray  John Delahunt  Jannie Dahl Hald  Bente Langdahl  Chumei Li  Marta Szybowska  Shehla Mohammed  Emma L Duncan  Aideen M McInerney‐Leo  Patricia G Wheeler  Paul Roschger  Klaus Klaushofer  Jyoti Rai  MaryAnn Weis  David Eyre  Ulrike Schwarze  Peter H Byers
Affiliation:1. Department of Medicine, Faculty of Medical and Health Sciences, University of Auckland, Auckland, New Zealand;2. Histology Department, Waikato Hospital, Hamilton, New Zealand;3. Department of Medicine, University of Otago, Wellington, New Zealand;4. Department of Endocrinology and Metabolism, Aarhus University Hospital, Aarhus, Denmark;5. McMaster University Medical Center, Hamilton, Canada;6. Department of Clinical Genetics, Guy's Hospital, London, UK;7. Institute of Health and Biomedical Innovation, Faculty of Health, Queensland University of Technology, Brisbane, Australia;8. Translational Genomics Group, Institute of Health and Biomedical Innovation, Woolloongabba, Queensland University of Technology, Woolloongabba, Australia;9. Arnold Palmer Hospital for Children, Orlando, FL, USA;10. Ludwig Boltzmann Institute of Osteology at the Hanusch Hospital of WGKK and AUVA Trauma Centre Meidling, 1st Medical Department, Hanusch Hospital, Vienna, Austria;11. Department of Orthopaedics and Sports Medicine, University of Washington, Seattle, WA, USA;12. Department of Pathology, University of Washington, Seattle, WA, USA;13. Department of Medicine, Division of Medical Genetics, University of Washington, Seattle, WA, USA
Abstract:
Keywords:OSTEOGENESIS IMPERFECTA  BONE HISTOMORPHOMETRY  COLLAGEN  BIOCHEMICAL MARKERS OF BONE TURNOVER
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