title: De novo homozygous mutation of the C1 inhibitor gene in a patient with hereditary angioedema.
authors.affiliation: Medical Genetics, Department of Clinical and Experimental Medicine, University of Foggia, Foggia, Italy.
authors.forename: Valeria
authors.initials: V
authors.lastname: Bafunno
authors.affiliation: Division of Nephrology and Center for the Diagnosis and Treatment of Hereditary Angioedema, Department of Emergency and Organ Transplantation, University "Aldo Moro" Bari, Azienda Ospedaliero-Universitaria "Consorziale Policlinico," Bari, Italy.
authors.forename: Chiara
authors.initials: C
authors.lastname: Divella
authors.affiliation: Medical Genetics, Department of Clinical and Experimental Medicine, University of Foggia, Foggia, Italy.
authors.forename: Francesco
authors.initials: F
authors.lastname: Sessa
authors.affiliation: Thrombosis & Haemostasis Unit, IRCCS Casa Sollievo della Sofferenza, S. Giovanni Rotondo, Foggia, Italy.
authors.forename: Giovanni Luca
authors.initials: GL
authors.lastname: Tiscia
authors.affiliation: Division of Nephrology and Center for the Diagnosis and Treatment of Hereditary Angioedema, Department of Emergency and Organ Transplantation, University "Aldo Moro" Bari, Azienda Ospedaliero-Universitaria "Consorziale Policlinico," Bari, Italy.
authors.forename: Giuseppe
authors.initials: G
authors.lastname: Castellano
authors.affiliation: Division of Nephrology and Center for the Diagnosis and Treatment of Hereditary Angioedema, Department of Emergency and Organ Transplantation, University "Aldo Moro" Bari, Azienda Ospedaliero-Universitaria "Consorziale Policlinico," Bari, Italy.
authors.forename: Loreto
authors.initials: L
authors.lastname: Gesualdo
authors.affiliation: Medical Genetics, Department of Clinical and Experimental Medicine, University of Foggia, Foggia, Italy.
authors.forename: Maurizio
authors.initials: M
authors.lastname: Margaglione
authors.affiliation: Division of Nephrology and Center for the Diagnosis and Treatment of Hereditary Angioedema, Department of Emergency and Organ Transplantation, University "Aldo Moro" Bari, Azienda Ospedaliero-Universitaria "Consorziale Policlinico," Bari, Italy. Electronic address: vincenzo.montinaro1@gmail.com.
authors.forename: Vincenzo
authors.initials: V
authors.lastname: Montinaro
mesh_terms: D000328:Adult; D054179:Angioedemas, Hereditary / Q000235:genetics*; D003174:Complement C1 Inactivator Proteins / Q000235:genetics*; D050718:Complement C1 Inhibitor Protein; D005260:Female; D006801:Humans; D009154:Mutation; D020641:Polymorphism, Single Nucleotide; D055815:Young Adult
chemical_list: D003174:Complement C1 Inactivator Proteins; D050718:Complement C1 Inhibitor Protein; C469952:SERPING1 protein, human