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Insight into the Pathology of a COL1A1 Signal Peptide Heterozygous Mutation Leading to Severe Osteogenesis Imperfecta.
Lindert, U; Gnoli, M; Maioli, M; Bedeschi, M F; Sangiorgi, L; Rohrbach, M; Giunta, C.
Afiliación
  • Lindert U; Connective Tissue Unit, Division of Metabolism and Children's Research Center, University Children's Hospital, Steinwiesstrasse 75, 8032, Zurich, Switzerland.
  • Gnoli M; Department of Medical Genetics and Skeletal Rare Diseases, Rizzoli Orthopaedic Institute, Bologna, Italy.
  • Maioli M; Department of Medical Genetics and Skeletal Rare Diseases, Rizzoli Orthopaedic Institute, Bologna, Italy.
  • Bedeschi MF; Medical Genetics Unit, Fondazione IRCCS Ca'Granda Ospedale Maggiore Policlinico, Milano, Italy.
  • Sangiorgi L; Department of Medical Genetics and Skeletal Rare Diseases, Rizzoli Orthopaedic Institute, Bologna, Italy.
  • Rohrbach M; Connective Tissue Unit, Division of Metabolism and Children's Research Center, University Children's Hospital, Steinwiesstrasse 75, 8032, Zurich, Switzerland.
  • Giunta C; Connective Tissue Unit, Division of Metabolism and Children's Research Center, University Children's Hospital, Steinwiesstrasse 75, 8032, Zurich, Switzerland. Cecilia.Giunta@kispi.uzh.ch.
Calcif Tissue Int ; 102(3): 373-379, 2018 03.
Article en En | MEDLINE | ID: mdl-29101475
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Osteogénesis Imperfecta / Señales de Clasificación de Proteína / Colágeno Tipo I / Heterocigoto / Mutación Límite: Humans Idioma: En Revista: Calcif Tissue Int Año: 2018 Tipo del documento: Article País de afiliación: Suiza Pais de publicación: Estados Unidos
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Osteogénesis Imperfecta / Señales de Clasificación de Proteína / Colágeno Tipo I / Heterocigoto / Mutación Límite: Humans Idioma: En Revista: Calcif Tissue Int Año: 2018 Tipo del documento: Article País de afiliación: Suiza Pais de publicación: Estados Unidos