title: First report of a FXII gene mutation in a Brazilian family with hereditary angio-oedema with normal C1 inhibitor.
authors: Institute of Human Genetics, University of Bonn, Germany.|Department of Genomics, Life & Brain Center, University of Bonn, Germany.
authors: C
authors: C
authors: Stieber
authors: Outpatient Group of Recurrent Infections, Center of Research, Faculty of Medicine ABC, São Paulo, Brazil.|Laboratory of Clinical Immunology, Center of Research, Faculty of Medicine ABC, São Paulo, Brazil.
authors: A S
authors: AS
authors: Grumach
authors: Laboratory of Clinical Immunology, Center of Research, Faculty of Medicine ABC, São Paulo, Brazil.
authors: E
authors: E
authors: Cordeiro
authors: Laboratory of Clinical Immunology, Center of Research, Faculty of Medicine ABC, São Paulo, Brazil.
authors: R N
authors: RN
authors: Constantino-Silva
authors: Institute of Human Genetics, University of Bonn, Germany.|Department of Genomics, Life & Brain Center, University of Bonn, Germany.
authors: S
authors: S
authors: Barth
authors: Institute of Human Genetics, University of Bonn, Germany.|Department of Genomics, Life & Brain Center, University of Bonn, Germany.|Division of Medical Genetics, Department of Biomedicine, University of Basel, Switzerland.
authors: P
authors: P
authors: Hoffmann
authors: Department of Biophysics, Federal University of São Paulo, São Paulo, Brazil.
authors: J B
authors: JB
authors: Pesquero
authors: Department of Molecular Medicine and Surgery, Karolinska Institute, Stockholm, Sweden.|Department of Clinical Chemistry/Central Laboratories, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
authors: T
authors: T
authors: Renné
authors: Institute of Human Genetics, University of Bonn, Germany.|Department of Genomics, Life & Brain Center, University of Bonn, Germany.
authors: M M
authors: MM
authors: Nöthen
authors: Institute of Human Genetics, University of Bonn, Germany.|Department of Genomics, Life & Brain Center, University of Bonn, Germany.|Division of Medical Genetics, Department of Biomedicine, University of Basel, Switzerland.
authors: S
authors: S
authors: Cichon
mesh_terms: D000328:Adult; D054179:Angioedemas, Hereditary / Q000235:genetics*; D003174:Complement C1 Inactivator Proteins / Q000235:genetics; D050718:Complement C1 Inhibitor Protein; D005174:Factor XII / Q000235:genetics*; D005260:Female; D006801:Humans; D009154:Mutation / Q000235:genetics*; D010375:Pedigree
chemical_list: D003174:Complement C1 Inactivator Proteins; D050718:Complement C1 Inhibitor Protein; C469952:SERPING1 protein, human; D005174:Factor XII