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COL1A1 C-propeptide cleavage site mutation causes high bone mass, bone fragility and jaw lesions: a new cause of gnathodiaphyseal dysplasia?
McInerney-Leo, A M; Duncan, E L; Leo, P J; Gardiner, B; Bradbury, L A; Harris, J E; Clark, G R; Brown, M A; Zankl, A.
Afiliação
  • McInerney-Leo AM; Human Genetics Group, The University of Queensland Diamantina Institute, Translational Research Institute, Princess Alexandra Hospital, Woolloongabba, QLD, 4102, Australia.
  • Duncan EL; Human Genetics Group, The University of Queensland Diamantina Institute, Translational Research Institute, Princess Alexandra Hospital, Woolloongabba, QLD, 4102, Australia.
  • Leo PJ; Department of Endocrinology, Royal Brisbane and Women's Hospital, Herston, QLD, 4029, Australia.
  • Gardiner B; Human Genetics Group, The University of Queensland Diamantina Institute, Translational Research Institute, Princess Alexandra Hospital, Woolloongabba, QLD, 4102, Australia.
  • Bradbury LA; Human Genetics Group, The University of Queensland Diamantina Institute, Translational Research Institute, Princess Alexandra Hospital, Woolloongabba, QLD, 4102, Australia.
  • Harris JE; Human Genetics Group, The University of Queensland Diamantina Institute, Translational Research Institute, Princess Alexandra Hospital, Woolloongabba, QLD, 4102, Australia.
  • Clark GR; Human Genetics Group, The University of Queensland Diamantina Institute, Translational Research Institute, Princess Alexandra Hospital, Woolloongabba, QLD, 4102, Australia.
  • Brown MA; Human Genetics Group, The University of Queensland Diamantina Institute, Translational Research Institute, Princess Alexandra Hospital, Woolloongabba, QLD, 4102, Australia.
  • Zankl A; Department of Medical Genetics, Academic Laboratory of Medical Genetics, Addenbrooke's Hospital, Cambridge, UK.
Clin Genet ; 88(1): 49-55, 2015 Jul.
Article em En | MEDLINE | ID: mdl-24891183

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Osteogênese Imperfeita / Colágeno Tipo I / Mutação Tipo de estudo: Diagnostic_studies / Etiology_studies / Prognostic_studies Limite: Female / Humans / Male Idioma: En Ano de publicação: 2015 Tipo de documento: Article

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Osteogênese Imperfeita / Colágeno Tipo I / Mutação Tipo de estudo: Diagnostic_studies / Etiology_studies / Prognostic_studies Limite: Female / Humans / Male Idioma: En Ano de publicação: 2015 Tipo de documento: Article