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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.
Cundy, Tim; Dray, Michael; Delahunt, John; Hald, Jannie Dahl; Langdahl, Bente; Li, Chumei; Szybowska, Marta; Mohammed, Shehla; Duncan, Emma L; McInerney-Leo, Aideen M; Wheeler, Patricia G; Roschger, Paul; Klaushofer, Klaus; Rai, Jyoti; Weis, MaryAnn; Eyre, David; Schwarze, Ulrike; Byers, Peter H.
Afiliação
  • Cundy T; Department of Medicine, Faculty of Medical and Health Sciences, University of Auckland, Auckland, New Zealand.
  • Dray M; Histology Department, Waikato Hospital, Hamilton, New Zealand.
  • Delahunt J; Department of Medicine, University of Otago, Wellington, New Zealand.
  • Hald JD; Department of Endocrinology and Metabolism, Aarhus University Hospital, Aarhus, Denmark.
  • Langdahl B; Department of Endocrinology and Metabolism, Aarhus University Hospital, Aarhus, Denmark.
  • Li C; McMaster University Medical Center, Hamilton, Canada.
  • Szybowska M; McMaster University Medical Center, Hamilton, Canada.
  • Mohammed S; Department of Clinical Genetics, Guy's Hospital, London, UK.
  • Duncan EL; Institute of Health and Biomedical Innovation, Faculty of Health, Queensland University of Technology, Brisbane, Australia.
  • McInerney-Leo AM; Translational Genomics Group, Institute of Health and Biomedical Innovation, Woolloongabba, Queensland University of Technology, Woolloongabba, Australia.
  • Wheeler PG; Arnold Palmer Hospital for Children, Orlando, FL, USA.
  • Roschger P; Ludwig Boltzmann Institute of Osteology at the Hanusch Hospital of WGKK and AUVA Trauma Centre Meidling, 1st Medical Department, Hanusch Hospital, Vienna, Austria.
  • Klaushofer K; Ludwig Boltzmann Institute of Osteology at the Hanusch Hospital of WGKK and AUVA Trauma Centre Meidling, 1st Medical Department, Hanusch Hospital, Vienna, Austria.
  • Rai J; Department of Orthopaedics and Sports Medicine, University of Washington, Seattle, WA, USA.
  • Weis M; Department of Orthopaedics and Sports Medicine, University of Washington, Seattle, WA, USA.
  • Eyre D; Department of Orthopaedics and Sports Medicine, University of Washington, Seattle, WA, USA.
  • Schwarze U; Department of Pathology, University of Washington, Seattle, WA, USA.
  • Byers PH; Department of Pathology, University of Washington, Seattle, WA, USA.
J Bone Miner Res ; 33(7): 1260-1271, 2018 07.
Article em En | MEDLINE | ID: mdl-29669177
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Osteogênese Imperfeita / Predisposição Genética para Doença / Colágeno Tipo I / Mutação Tipo de estudo: Risk_factors_studies Limite: Adolescent / Adult / Aged / Child / Child, preschool / Female / Humans / Male / Middle aged Idioma: En Revista: J Bone Miner Res Assunto da revista: METABOLISMO / ORTOPEDIA Ano de publicação: 2018 Tipo de documento: Article País de afiliação: Nova Zelândia País de publicação: Estados Unidos
Texto completo
Adicionar na Minha BVS
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Osteogênese Imperfeita / Predisposição Genética para Doença / Colágeno Tipo I / Mutação Tipo de estudo: Risk_factors_studies Limite: Adolescent / Adult / Aged / Child / Child, preschool / Female / Humans / Male / Middle aged Idioma: En Revista: J Bone Miner Res Assunto da revista: METABOLISMO / ORTOPEDIA Ano de publicação: 2018 Tipo de documento: Article País de afiliação: Nova Zelândia País de publicação: Estados Unidos