Article
Coagulation Factor XII Gene Mutation in Brazilian Families with Hereditary Angioedema with Normal C1 Inhibitor.
International archives of allergy and immunology - 1 Jan 2015
Moreno Adriana S, Valle Solange O R, Levy Soloni, França Alfeu T, Serpa Faradiba S, Arcuri Helen A, Palma Mario S, Campos Wagner N, Dias Marina M, Ponard Denise, Monnier Nicole, Lunardi Joel, Bork Konrad, Silva Wilson Araujo, Arruda L Karla
Abstract excerpt
BACKGROUND: Hereditary angioedema (HAE) with normal C1 inhibitor (C1-INH) is a rare disorder. Mutations of the gene encoding coagulation factor XII have been identified in a subset of patients with this condition. Our aim was to investigate mutations in the F12 gene in patients with HAE with normal C1-INH from Brazil. METHODS: We studied 5 Brazilian families with index female patients who presented with recurrent...
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