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Caffey disease is associated with distinct arginine to cysteine substitutions in the proα1(I) chain of type I procollagen.
Dhooge, Tibbe; Syx, Delfien; Hermanns-Lê, Trinh; Hausser, Ingrid; Mortier, Geert; Zonana, Jonathan; Symoens, Sofie; Byers, Peter H; Malfait, Fransiska.
Afiliación
  • Dhooge T; Center for Medical Genetics, Department of Biomolecular Medicine, Ghent University, Ghent University Hospital, Ghent, Belgium.
  • Syx D; Center for Medical Genetics, Department of Biomolecular Medicine, Ghent University, Ghent University Hospital, Ghent, Belgium.
  • Hermanns-Lê T; Department of Dermatopathology, University Hospital of Sart-Tilman, Liège University, Liège, Belgium.
  • Hausser I; Institute of Pathology, Heidelberg University Hospital, Heidelberg, Germany.
  • Mortier G; Department of Medical Genetics, Antwerp University Hospital and University of Antwerp, Antwerp, Belgium.
  • Zonana J; Department of Molecular and Medical Genetics, Oregon Health and Sciences University, Portland, OR, USA.
  • Symoens S; Center for Medical Genetics, Department of Biomolecular Medicine, Ghent University, Ghent University Hospital, Ghent, Belgium.
  • Byers PH; Department of Pathology and Division of Medical Genetics, Department of Medicine, University of Washington, Seattle, WA, USA.
  • Malfait F; Center for Medical Genetics, Department of Biomolecular Medicine, Ghent University, Ghent University Hospital, Ghent, Belgium. Fransiska.Malfait@UGent.be.
Genet Med ; 23(12): 2378-2385, 2021 12.
Article en En | MEDLINE | ID: mdl-34272483
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Texto completo: 1 Colección: 01-internacional Asunto principal: Hiperostosis Cortical Congénita / Cisteína / Cadena alfa 1 del Colágeno Tipo I Tipo de estudio: Risk_factors_studies Límite: Child, preschool / Humans Idioma: En Revista: Genet Med Asunto de la revista: GENETICA MEDICA Año: 2021 Tipo del documento: Article País de afiliación: Bélgica
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Texto completo: 1 Colección: 01-internacional Asunto principal: Hiperostosis Cortical Congénita / Cisteína / Cadena alfa 1 del Colágeno Tipo I Tipo de estudio: Risk_factors_studies Límite: Child, preschool / Humans Idioma: En Revista: Genet Med Asunto de la revista: GENETICA MEDICA Año: 2021 Tipo del documento: Article País de afiliación: Bélgica