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A Novel Domain-Specific Mutation in a Sclerosteosis Patient Suggests a Role of LRP4 as an Anchor for Sclerostin in Human Bone.
Fijalkowski, Igor; Geets, Ellen; Steenackers, Ellen; Van Hoof, Viviane; Ramos, Feliciano J; Mortier, Geert; Fortuna, Ana Maria; Van Hul, Wim; Boudin, Eveline.
Afiliação
  • Fijalkowski I; Department of Medical Genetics, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium.
  • Geets E; Department of Medical Genetics, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium.
  • Steenackers E; Department of Medical Genetics, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium.
  • Van Hoof V; Department of Clinical Chemistry, Antwerp University Hospital, Antwerp, Belgium.
  • Ramos FJ; Unidad de Genética, Servicio de Pediatria, Hospital Clinico Universitario "Lozano Blesa", GCV-CIBERER, Facultad de Medicina, Universidad de Zaragoza, Zaragoza, Spain.
  • Mortier G; Department of Medical Genetics, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium.
  • Fortuna AM; Centro de Genética Médica, Centro Hospitalar do Porto, and Unit for Multidisciplinary Research in Biomedicine, UMIB, ICBAS-UP,, Porto, Portugal.
  • Van Hul W; Department of Medical Genetics, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium.
  • Boudin E; Department of Medical Genetics, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium.
J Bone Miner Res ; 31(4): 874-81, 2016 Apr.
Article em En | MEDLINE | ID: mdl-26751728

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Marcadores Genéticos / Hiperostose / Sindactilia / Proteínas Morfogenéticas Ósseas / Mutação de Sentido Incorreto / Proteínas Relacionadas a Receptor de LDL Tipo de estudo: Prognostic_studies Limite: Humans Idioma: En Ano de publicação: 2016 Tipo de documento: Article

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Marcadores Genéticos / Hiperostose / Sindactilia / Proteínas Morfogenéticas Ósseas / Mutação de Sentido Incorreto / Proteínas Relacionadas a Receptor de LDL Tipo de estudo: Prognostic_studies Limite: Humans Idioma: En Ano de publicação: 2016 Tipo de documento: Article