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Identification and characterization of a novel FBN1 gene variant in an extended family with variable clinical phenotype of Marfan syndrome.
Ergoren, Mahmut Cerkez; Turkgenc, Burcu; Terali, Kerem; Rodoplu, Orhan; Verstraeten, Aline; Van Laer, Lut; Mocan, Gamze; Loeys, Bart; Tetik, Omer; Temel, Sehime G.
Afiliação
  • Ergoren MC; a Department of Medical Biology, Faculty of Medicine , Near East University , Nicosia , Cyprus.
  • Turkgenc B; b Acibadem Genetic Diagnostic Center , Istanbul , Turkey.
  • Terali K; c Department of Medical Biochemistry, Faculty of Medicine , Near East University , Nicosia , Cyprus.
  • Rodoplu O; d Department of Cardiovascular Surgery , Private Yalova Hospital , Yalova , Turkey.
  • Verstraeten A; e Center for Medical Genetics , Antwerp University Hospital/University of Antwerp , Antwerp , Belgium.
  • Van Laer L; e Center for Medical Genetics , Antwerp University Hospital/University of Antwerp , Antwerp , Belgium.
  • Mocan G; f Department of Pathology, Faculty of Medicine , Near East University , Nicosia , Cyprus.
  • Loeys B; e Center for Medical Genetics , Antwerp University Hospital/University of Antwerp , Antwerp , Belgium.
  • Tetik O; g Department of Cardiovascular Surgery , Celal Bayar University , Manisa , Turkey.
  • Temel SG; h Department of Histology and Embryology , Uludag University , Bursa , Turkey.
Connect Tissue Res ; 60(2): 146-154, 2019 03.
Article em En | MEDLINE | ID: mdl-29732924
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Fibrilina-1 / Síndrome de Marfan / Mutação Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Adolescent / Adult / Child / Female / Humans / Male Idioma: En Revista: Connect Tissue Res Ano de publicação: 2019 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Fibrilina-1 / Síndrome de Marfan / Mutação Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Adolescent / Adult / Child / Female / Humans / Male Idioma: En Revista: Connect Tissue Res Ano de publicação: 2019 Tipo de documento: Article