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Clinical and Genetic Heterogeneity in a Large Family with Pseudoxanthoma Elasticum: MTHFR and SERPINE1 Variants as Possible Disease Modifiers in Developing Ischemic Stroke.
Bruno, Giorgia; Ritelli, Marco; Di Pietro, Andrea; Cipriano, Lorenzo; Colombi, Marina; Lus, Giacomo; Puoti, Gianfranco.
Afiliação
  • Bruno G; Division of Neurology, Department of Advanced Medical and Surgical Sciences, University of Campania "Luigi Vanvitelli", Naples, Italy.
  • Ritelli M; Division of Biology and Genetics, Department of Molecular and Translational Medicine, University of Brescia, Brescia, Italy.
  • Di Pietro A; Division of Neurology, Department of Advanced Medical and Surgical Sciences, University of Campania "Luigi Vanvitelli", Naples, Italy.
  • Cipriano L; Division of Neurology, Department of Advanced Medical and Surgical Sciences, University of Campania "Luigi Vanvitelli", Naples, Italy.
  • Colombi M; Division of Biology and Genetics, Department of Molecular and Translational Medicine, University of Brescia, Brescia, Italy.
  • Lus G; Division of Neurology, Department of Advanced Medical and Surgical Sciences, University of Campania "Luigi Vanvitelli", Naples, Italy.
  • Puoti G; Division of Neurology, Department of Advanced Medical and Surgical Sciences, University of Campania "Luigi Vanvitelli", Naples, Italy. Electronic address: gianfranco.puoti@unicampania.it.
J Stroke Cerebrovasc Dis ; 30(6): 105744, 2021 Jun.
Article em En | MEDLINE | ID: mdl-33813081
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Pseudoxantoma Elástico / Inibidor 1 de Ativador de Plasminogênio / Heterogeneidade Genética / Trombofilia / Proteínas Associadas à Resistência a Múltiplos Medicamentos / Metilenotetra-Hidrofolato Redutase (NADPH2) / AVC Isquêmico Tipo de estudo: Diagnostic_studies / Etiology_studies / Risk_factors_studies Limite: Adult / Female / Humans / Male Idioma: En Ano de publicação: 2021 Tipo de documento: Article
Texto completo
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Pseudoxantoma Elástico / Inibidor 1 de Ativador de Plasminogênio / Heterogeneidade Genética / Trombofilia / Proteínas Associadas à Resistência a Múltiplos Medicamentos / Metilenotetra-Hidrofolato Redutase (NADPH2) / AVC Isquêmico Tipo de estudo: Diagnostic_studies / Etiology_studies / Risk_factors_studies Limite: Adult / Female / Humans / Male Idioma: En Ano de publicação: 2021 Tipo de documento: Article