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A novel deep intronic SERPING1 variant as a cause of hereditary angioedema due to C1-inhibitor deficiency.
Vatsiou, Sofia; Zamanakou, Maria; Loules, Gedeon; Psarros, Fotis; Parsopoulou, Faidra; Csuka, Dorottya; Valerieva, Anna; Staevska, Maria; Porebski, Grzegorz; Obtulowicz, Krystyna; Magerl, Markus; Maurer, Marcus; Speletas, Matthaios; Farkas, Henriette; Germenis, Anastasios E.
Afiliação
  • Vatsiou S; CeMIA SA, Larissa, Greece; Department of Immunology & Histocompatibility, University of Thessaly, School of Health Sciences, Faculty of Medicine, Larissa, Greece.
  • Zamanakou M; CeMIA SA, Larissa, Greece.
  • Loules G; CeMIA SA, Larissa, Greece.
  • Psarros F; Department of Allergology, Navy Hospital, Athens, Greece.
  • Parsopoulou F; CeMIA SA, Larissa, Greece; Department of Immunology & Histocompatibility, University of Thessaly, School of Health Sciences, Faculty of Medicine, Larissa, Greece.
  • Csuka D; Hungarian Angioedema Reference Center, 3rd Department of Internal Medicine, Semmelweis University, Budapest, Hungary.
  • Valerieva A; Clinic of Allergy and Asthma, Medical University of Sofia, Sofia, Bulgaria.
  • Staevska M; Clinic of Allergy and Asthma, Medical University of Sofia, Sofia, Bulgaria.
  • Porebski G; Department of Clinical and Environmental Allergology, Jagiellonian University Medical College, Krakow, Poland.
  • Obtulowicz K; Department of Clinical and Environmental Allergology, Jagiellonian University Medical College, Krakow, Poland.
  • Magerl M; Department of Dermatology and Allergy, Charité - Universitätsmedizin Berlin, Berlin, Germany.
  • Maurer M; Department of Dermatology and Allergy, Charité - Universitätsmedizin Berlin, Berlin, Germany.
  • Speletas M; Department of Immunology & Histocompatibility, University of Thessaly, School of Health Sciences, Faculty of Medicine, Larissa, Greece.
  • Farkas H; Hungarian Angioedema Reference Center, 3rd Department of Internal Medicine, Semmelweis University, Budapest, Hungary.
  • Germenis AE; CeMIA SA, Larissa, Greece; Department of Immunology & Histocompatibility, University of Thessaly, School of Health Sciences, Faculty of Medicine, Larissa, Greece. Electronic address: agermen@med.uth.gr.
Allergol Int ; 69(3): 443-449, 2020 Jul.
Article em En | MEDLINE | ID: mdl-31959500
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Íntrons / Predisposição Genética para Doença / Proteína Inibidora do Complemento C1 / Angioedemas Hereditários / Mutação Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Humans Idioma: En Ano de publicação: 2020 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Íntrons / Predisposição Genética para Doença / Proteína Inibidora do Complemento C1 / Angioedemas Hereditários / Mutação Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Humans Idioma: En Ano de publicação: 2020 Tipo de documento: Article