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Mutation analysis of the FBN1 gene in a cohort of patients with Marfan Syndrome: A 10-year single center experience.
Mannucci, Liliana; Luciano, Serena; Salehi, Leila B; Gigante, Laura; Conte, Chiara; Longo, Giuliana; Ferradini, Valentina; Piumelli, Nunzia; Brancati, Francesco; Ruvolo, Giovanni; Novelli, Giuseppe; Sangiuolo, Federica.
Afiliação
  • Mannucci L; Medical Genetics Unit, Tor Vergata Hospital, Rome, Italy. Electronic address: liliana.mannucci@ptvonline.it.
  • Luciano S; Department of Biomedicine and Prevention, University of Rome "Tor Vergata", Rome, Italy.
  • Salehi LB; Medical Genetics Unit, Tor Vergata Hospital, Rome, Italy; Marfan Syndrome Study Group, Tor Vergata Hospital, Rome, Italy.
  • Gigante L; Medical Genetics Unit, Tor Vergata Hospital, Rome, Italy.
  • Conte C; Medical Genetics Unit, Tor Vergata Hospital, Rome, Italy.
  • Longo G; Department of Biomedicine and Prevention, University of Rome "Tor Vergata", Rome, Italy.
  • Ferradini V; Department of Biomedicine and Prevention, University of Rome "Tor Vergata", Rome, Italy.
  • Piumelli N; Department of Biomedicine and Prevention, University of Rome "Tor Vergata", Rome, Italy.
  • Brancati F; Department of Life, Health and Environmental Sciences, University of L'Aquila, L'Aquila, Italy.
  • Ruvolo G; Marfan Syndrome Study Group, Tor Vergata Hospital, Rome, Italy; Department of Experimental Medicine and Surgery, Tor Vergata University, Rome, Italy.
  • Novelli G; Medical Genetics Unit, Tor Vergata Hospital, Rome, Italy; Department of Biomedicine and Prevention, University of Rome "Tor Vergata", Rome, Italy; Marfan Syndrome Study Group, Tor Vergata Hospital, Rome, Italy.
  • Sangiuolo F; Medical Genetics Unit, Tor Vergata Hospital, Rome, Italy; Department of Biomedicine and Prevention, University of Rome "Tor Vergata", Rome, Italy; Marfan Syndrome Study Group, Tor Vergata Hospital, Rome, Italy.
Clin Chim Acta ; 501: 154-164, 2020 Feb.
Article em En | MEDLINE | ID: mdl-31730815
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Análise Mutacional de DNA / Fibrilina-1 / Síndrome de Marfan Tipo de estudo: Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies / Screening_studies Limite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Male / Middle aged País/Região como assunto: Europa Idioma: En Revista: Clin Chim Acta Ano de publicação: 2020 Tipo de documento: Article
Texto completo
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PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Análise Mutacional de DNA / Fibrilina-1 / Síndrome de Marfan Tipo de estudo: Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies / Screening_studies Limite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Male / Middle aged País/Região como assunto: Europa Idioma: En Revista: Clin Chim Acta Ano de publicação: 2020 Tipo de documento: Article