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Delineation of Ehlers-Danlos syndrome phenotype due to the c.934C>T, p.(Arg312Cys) mutation in COL1A1: Report on a three-generation family without cardiovascular events, and literature review.
Colombi, Marina; Dordoni, Chiara; Venturini, Marina; Zanca, Arianna; Calzavara-Pinton, Piergiacomo; Ritelli, Marco.
Afiliação
  • Colombi M; Department of Molecular and Translational Medicine, School of Medicine, Division of Biology and Genetics, University of Brescia, Brescia, Italy.
  • Dordoni C; Department of Molecular and Translational Medicine, School of Medicine, Division of Biology and Genetics, University of Brescia, Brescia, Italy.
  • Venturini M; Department of Clinical and Experimental Sciences, Division of Dermatology, Spedali Civili University Hospital, Berscia, Italy.
  • Zanca A; Department of Clinical and Experimental Sciences, Division of Dermatology, Spedali Civili University Hospital, Berscia, Italy.
  • Calzavara-Pinton P; Department of Clinical and Experimental Sciences, Division of Dermatology, Spedali Civili University Hospital, Berscia, Italy.
  • Ritelli M; Department of Molecular and Translational Medicine, School of Medicine, Division of Biology and Genetics, University of Brescia, Brescia, Italy.
Am J Med Genet A ; 173(2): 524-530, 2017 Feb.
Article em En | MEDLINE | ID: mdl-28102596
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Fenótipo / Colágeno Tipo I / Síndrome de Ehlers-Danlos / Alelos / Mutação Tipo de estudo: Risk_factors_studies Limite: Adolescent / Adult / Female / Humans / Male / Middle aged Idioma: En Ano de publicação: 2017 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Fenótipo / Colágeno Tipo I / Síndrome de Ehlers-Danlos / Alelos / Mutação Tipo de estudo: Risk_factors_studies Limite: Adolescent / Adult / Female / Humans / Male / Middle aged Idioma: En Ano de publicação: 2017 Tipo de documento: Article