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Association of hereditary angioedema type 1 with developmental anomalies due to a large and unusual de novo pericentromeric rearrangement of chromosome 11 spanning the entire C1 inhibitor gene (SERPING1).
Ebo, Didier G; Blaumeiser, Bettina; Kooy, Frank R; Beckers, Sigri; Van Gasse, Athina L; Saerens, Michael; Spinhoven, Maarten; Sabato, Vito; Poirel, Hélène A.
Afiliação
  • Ebo DG; Department of Immunology-Allergology-Rheumatology, Faculty of Medicine and Health Sciences, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium. Electronic address: immuno@uantwerpen.be.
  • Blaumeiser B; Department of Medical Genetics, Faculty of Medicine and Health Sciences, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium.
  • Kooy FR; Department of Medical Genetics, Faculty of Medicine and Health Sciences, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium.
  • Beckers S; Department of Medical Genetics, Faculty of Medicine and Health Sciences, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium.
  • Van Gasse AL; Department of Immunology-Allergology-Rheumatology, Faculty of Medicine and Health Sciences, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium.
  • Saerens M; Department of Gastroenterology, Faculty of Medicine and Health Sciences, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium.
  • Spinhoven M; Department of Gastroenterology, Faculty of Medicine and Health Sciences, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium.
  • Sabato V; Department of Immunology-Allergology-Rheumatology, Faculty of Medicine and Health Sciences, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium.
  • Poirel HA; Belgian Cancer Registry and GenHAP, Brussels, Belgium.
J Allergy Clin Immunol Pract ; 7(4): 1352-1354.e3, 2019 Apr.
Article em En | MEDLINE | ID: mdl-30336291
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Cromossomos Humanos Par 11 / Centrômero / Criptorquidismo / Proteína Inibidora do Complemento C1 / Angioedema Hereditário Tipos I e II / Microcefalia / Mutação Tipo de estudo: Diagnostic_studies / Risk_factors_studies Limite: Child, preschool / Humans / Male Idioma: En Revista: J Allergy Clin Immunol Pract Ano de publicação: 2019 Tipo de documento: Article
Texto completo
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XML
PubMed Links
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Cromossomos Humanos Par 11 / Centrômero / Criptorquidismo / Proteína Inibidora do Complemento C1 / Angioedema Hereditário Tipos I e II / Microcefalia / Mutação Tipo de estudo: Diagnostic_studies / Risk_factors_studies Limite: Child, preschool / Humans / Male Idioma: En Revista: J Allergy Clin Immunol Pract Ano de publicação: 2019 Tipo de documento: Article