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Novel missense ACAN gene variants linked to familial osteochondritis dissecans cluster in the C-terminal globular domain of aggrecan.
Stattin, Eva-Lena; Lindblom, Karin; Struglics, André; Önnerfjord, Patrik; Goldblatt, Jack; Dixit, Abhijit; Sarkar, Ajoy; Randell, Tabitha; Suri, Mohnish; Raggio, Cathleen; Davis, Jessica; Carter, Erin; Aspberg, Anders.
Afiliación
  • Stattin EL; Department of Immunology, Genetics and Pathology, Uppsala University, Uppsala, Sweden.
  • Lindblom K; Rheumatology and Molecular Skeletal Biology, Department of Clinical Sciences Lund, Lund University, BMC-C12, 22184, Lund, Sweden.
  • Struglics A; Orthopaedics, Department of Clinical Sciences Lund, Lund University, Lund, Sweden.
  • Önnerfjord P; Rheumatology and Molecular Skeletal Biology, Department of Clinical Sciences Lund, Lund University, BMC-C12, 22184, Lund, Sweden.
  • Goldblatt J; Genetic Services & Familial Cancer Program of Western Australia, King Edward Memorial Hospital for Women, Perth, WA, Australia.
  • Dixit A; Department of Clinical Genetics, Nottingham University Hospitals NHS Trust, Nottingham, UK.
  • Sarkar A; Department of Clinical Genetics, Nottingham University Hospitals NHS Trust, Nottingham, UK.
  • Randell T; Department of Paediatric Endocrinology, Nottingham University Hospitals NHS Trust, Nottingham, UK.
  • Suri M; Department of Clinical Genetics, Nottingham University Hospitals NHS Trust, Nottingham, UK.
  • Raggio C; Kathryn O. and Alan C. Greenberg Center for Skeletal Dysplasias, Hospital for Special Surgery, New York, NY, USA.
  • Davis J; Kathryn O. and Alan C. Greenberg Center for Skeletal Dysplasias, Hospital for Special Surgery, New York, NY, USA.
  • Carter E; Kathryn O. and Alan C. Greenberg Center for Skeletal Dysplasias, Hospital for Special Surgery, New York, NY, USA.
  • Aspberg A; Rheumatology and Molecular Skeletal Biology, Department of Clinical Sciences Lund, Lund University, BMC-C12, 22184, Lund, Sweden. anders.aspberg@med.lu.se.
Sci Rep ; 12(1): 5215, 2022 03 25.
Article en En | MEDLINE | ID: mdl-35338222
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Osteocondritis Disecante / Enanismo Límite: Humans Idioma: En Revista: Sci Rep Año: 2022 Tipo del documento: Article País de afiliación: Suecia
Texto completo
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Osteocondritis Disecante / Enanismo Límite: Humans Idioma: En Revista: Sci Rep Año: 2022 Tipo del documento: Article País de afiliación: Suecia