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Open Access
Peer-reviewed
Research Article
Phenotypic and molecular characterization of the largest worldwide cluster of hereditary angioedema type 1
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Juan Sebastian Arias-Flórez,
Roles Conceptualization, Formal analysis, Investigation, Methodology, Writing – original draft, Writing – review & editing
Affiliation Department of Morphology, Institute of Human Genetics, Grupo Investigación Genética Clínica UNAL, Universidad Nacional de Colombia, Bogotá D.C., Colombia
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Sandra Ximena Ramirez,
Roles Conceptualization, Data curation, Writing – original draft, Writing – review & editing
Affiliation Department of Internal Medicine, Hospital Universitario Mayor-Mederi, Universidad del Rosario, Bogotá D.C, Colombia
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Bibiana Bayona-Gomez,
Roles Data curation, Investigation, Writing – original draft, Writing – review & editing
Affiliation Department of Pediatrics, La Cardio, and Universidad del Rosario, Bogotá D.C, Colombia
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Lina Castro-Castillo,
Roles Conceptualization, Data curation, Writing – original draft, Writing – review & editing
Affiliation Department of Pediatrics, La Cardio, and Universidad del Rosario, Bogotá D.C, Colombia
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Valeria Correa-Martinez,
Roles Data curation, Formal analysis, Writing – original draft, Writing – review & editing
Affiliation School of Medicine, Universidad Nacional de Colombia, Bogotá D.C., Colombia
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Yasmín Sanchez-Gomez,
Roles Conceptualization, Funding acquisition, Investigation, Methodology, Writing – original draft, Writing – review & editing
Affiliation Universidad de Boyacá, Medisens IPS, Tunja, Colombia
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William Usaquén-Martínez,
Roles Conceptualization, Data curation, Funding acquisition, Investigation, Writing – original draft, Writing – review & editing
Affiliation Grupo de Genética de Poblaciones e Identificación, Institute of Human Genetics, Universidad Nacional de Colombia, Bogotá D.C., Colombia
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Lilian Andrea Casas-Vargas,
Roles Conceptualization, Funding acquisition, Investigation, Project administration, Writing – original draft, Writing – review & editing
Affiliation Grupo de Genética de Poblaciones e Identificación, Institute of Human Genetics, Universidad Nacional de Colombia, Bogotá D.C., Colombia
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Carlos Eduardo Olmos Olmos,
Roles Data curation, Writing – original draft, Writing – review & editing
Affiliation School of Medicine and Health Sciences, Universidad del Rosario, Bogotá D.C., Colombia
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Nora Contreras Bravo,
Roles Investigation, Methodology, Writing – original draft, Writing – review & editing
Affiliation School of Medicine and Health Sciences, Center for Research in Genetics and Genomics (CIGGUR), Institute of Translational Medicine (IMT), Universidad del Rosario, Bogotá D.C., Colombia
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Camilo Andres Velandia-Piedrahita,
Roles Conceptualization, Investigation, Writing – original draft, Writing – review & editing
Affiliation School of Medicine and Health Sciences, Center for Research in Genetics and Genomics (CIGGUR), Institute of Translational Medicine (IMT), Universidad del Rosario, Bogotá D.C., Colombia
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Adrien Morel,
Roles Data curation, Investigation, Writing – original draft, Writing – review & editing
Affiliation School of Medicine and Health Sciences, Center for Research in Genetics and Genomics (CIGGUR), Institute of Translational Medicine (IMT), Universidad del Rosario, Bogotá D.C., Colombia
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Rodrigo Cabrera-Perez,
Roles Data curation, Formal analysis, Investigation, Methodology, Software, Validation, Writing – original draft, Writing – review & editing
Affiliation School of Medicine and Health Sciences, Center for Research in Genetics and Genomics (CIGGUR), Institute of Translational Medicine (IMT), Universidad del Rosario, Bogotá D.C., Colombia
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Natalia Santiago-Tovar,
Roles Data curation, Formal analysis, Investigation, Writing – original draft, Writing – review & editing
Affiliation School of Medicine and Health Sciences, Center for Research in Genetics and Genomics (CIGGUR), Institute of Translational Medicine (IMT), Universidad del Rosario, Bogotá D.C., Colombia
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Cristian Camilo Gaviria-Sabogal,
Roles Data curation, Formal analysis, Investigation, Writing – original draft, Writing – review & editing
Affiliation School of Medicine and Health Sciences, Center for Research in Genetics and Genomics (CIGGUR), Institute of Translational Medicine (IMT), Universidad del Rosario, Bogotá D.C., Colombia
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Ingrid Tatyana Bernal,
Roles Conceptualization, Data curation, Investigation, Writing – original draft, Writing – review & editing
Affiliation Universidad Nacional de Colombia, Bogotá, Colombia
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Dora Janeth Fonseca-Mendoza,
Roles Conceptualization, Data curation, Funding acquisition, Investigation, Project administration, Writing – original draft, Writing – review & editing
Affiliation School of Medicine and Health Sciences, Center for Research in Genetics and Genomics (CIGGUR), Institute of Translational Medicine (IMT), Universidad del Rosario, Bogotá D.C., Colombia
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Carlos M. Restrepo
Roles Conceptualization, Funding acquisition, Investigation, Project administration, Supervision, Writing – original draft, Writing – review & editing
* E-mail: carlos.restrepo@urosario.edu.co
Affiliation School of Medicine and Health Sciences, Center for Research in Genetics and Genomics (CIGGUR), Institute of Translational Medicine (IMT), Universidad del Rosario, Bogotá D.C., Colombia
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Phenotypic and molecular characterization of the largest worldwide cluster of hereditary angioedema type 1
- Juan Sebastian Arias-Flórez,
- Sandra Ximena Ramirez,
- Bibiana Bayona-Gomez,
- Lina Castro-Castillo,
- Valeria Correa-Martinez,
- Yasmín Sanchez-Gomez,
- William Usaquén-Martínez,
- Lilian Andrea Casas-Vargas,
- Carlos Eduardo Olmos Olmos,
- Nora Contreras Bravo
- Published: December 26, 2024
- https://doi.org/10.1371/journal.pone.0311316