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Functional characterisation of a novel mutation affecting the catalytic domain of MMP2 in siblings with multicentric osteolysis, nodulosis and arthropathy.
Azzollini, Jacopo; Rovina, Davide; Gervasini, Cristina; Parenti, Ilaria; Fratoni, Alessia; Cubellis, Maria Vittoria; Cerri, Amilcare; Pietrogrande, Luca; Larizza, Lidia.
Afiliación
  • Azzollini J; Medical Genetics, Department of Health Sciences, University of Milan, Milan, Italy.
  • Rovina D; Medical Genetics, Department of Health Sciences, University of Milan, Milan, Italy.
  • Gervasini C; Medical Genetics, Department of Health Sciences, University of Milan, Milan, Italy.
  • Parenti I; Medical Genetics, Department of Health Sciences, University of Milan, Milan, Italy.
  • Fratoni A; Medical Genetics, Department of Health Sciences, University of Milan, Milan, Italy.
  • Cubellis MV; Department of Biology, University 'Federico II', Naples, Italy.
  • Cerri A; Dermatologic Unit, Department of Health Sciences, San Paolo Hospital, University of Milan, Milan, Italy.
  • Pietrogrande L; Operative Unit of Orthopaedics and Traumatology, Department of Health Sciences, San Paolo Hospital, University of Milan, Milan, Italy.
  • Larizza L; 1] Medical Genetics, Department of Health Sciences, University of Milan, Milan, Italy [2] Laboratory of Medical Cytogenetics and Molecular Genetics, IRCCS Istituto Auxologico Italiano, Milan, Italy.
J Hum Genet ; 59(11): 631-7, 2014 Nov.
Article en En | MEDLINE | ID: mdl-25273674
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Osteólisis / Dominio Catalítico / Mutación Missense / Metaloproteinasa 2 de la Matriz / Hermanos Tipo de estudio: Prognostic_studies Límite: Adult / Female / Humans / Male Idioma: En Revista: J Hum Genet Asunto de la revista: GENETICA MEDICA Año: 2014 Tipo del documento: Article País de afiliación: Italia
Texto completo
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XML
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Osteólisis / Dominio Catalítico / Mutación Missense / Metaloproteinasa 2 de la Matriz / Hermanos Tipo de estudio: Prognostic_studies Límite: Adult / Female / Humans / Male Idioma: En Revista: J Hum Genet Asunto de la revista: GENETICA MEDICA Año: 2014 Tipo del documento: Article País de afiliación: Italia