SERPING1 Mutation Update
SERPING1 mutation update: Mutation spectrum and C1 Inhibitor phenotypes Denise Ponard, Christine Gaboriaud, Delphine Charignon, Arije Ghannam, Ineke Wagenaar-Bos, Dorina Roem, Alberto López-Lera, Margarita López-Trascasa, Mario Tosi, Christian Drouet To cite this version: Denise Ponard, Christine Gaboriaud, Delphine Charignon, Arije Ghannam, Ineke Wagenaar-Bos, et al.. SERPING1 mutation update: Mutation spectrum and C1 Inhibitor phenotypes. Human Mutation, Wiley, 2020, 41 (1), pp.38-57. 10.1002/humu.23917. hal-02429966 HAL Id: hal-02429966 https://hal.archives-ouvertes.fr/hal-02429966 Submitted on 24 Sep 2020 HAL is a multi-disciplinary open access L’archive ouverte pluridisciplinaire HAL, est archive for the deposit and dissemination of sci- destinée au dépôt et à la diffusion de documents entific research documents, whether they are pub- scientifiques de niveau recherche, publiés ou non, lished or not. The documents may come from émanant des établissements d’enseignement et de teaching and research institutions in France or recherche français ou étrangers, des laboratoires abroad, or from public or private research centers. publics ou privés. Christian DROUET ORCID iD: 0000-0003-1318-4278 Title SERPING1 mutation update: Mutation spectrum and C1 Inhibitor phenotypes Running title Description and phenotype analysis of SERPING1 variants Authors Denise Ponard1,2, Christine Gaboriaud3, Delphine Charignon4,5, Arije Ghannam4,5, Ineke G.A. Wagenaar-Bos6,7, Dorina Roem6, Alberto López-Lera8, Margarita López- Trascasa8,9, Mario Tosi10, Christian Drouet1,4,11 Author affiliations 1 Centre de Référence des Angioedèmes (CREAK), Filière MaRIH, CHU Grenoble France 2 Laboratoire d’Immunologie, CHU Grenoble Alpes, Grenoble, France 3 Univ. Grenoble Alpes, CEA, CNRS, IBS, Grenoble, France 4 Univ.
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