De novo homozygous mutation of the C1 inhibitor gene in a patient with hereditary angioedema Valeria Bafunno, PhD, Chiara Divella, PhD, Francesco Sessa,

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Presentation transcript:

De novo homozygous mutation of the C1 inhibitor gene in a patient with hereditary angioedema Valeria Bafunno, PhD, Chiara Divella, PhD, Francesco Sessa, ScD, Giovanni Luca Tiscia, PhD, Giuseppe Castellano, MD, Loreto Gesualdo, MD, Maurizio Margaglione, MD, Vincenzo Montinaro, MD Journal of Allergy and Clinical Immunology Volume 132, Issue 3, Pages 748-750.e3 (September 2013) DOI: 10.1016/j.jaci.2013.04.006 Copyright © 2013 American Academy of Allergy, Asthma & Immunology Terms and Conditions

Fig 1 Biochemical and genetic studies on the ins/del mutant. A, Western blot of plasma samples of the family members showing the native (105 kd) and cleaved (96 kd) forms of C1-INH. B, Sequence chromatograms showing the presence of the mutation in the DNA of the proband and her parents. C and D, Long-range PCR and RsaI restriction analysis in the proband and family members. HDP, Healthy donor plasma. Journal of Allergy and Clinical Immunology 2013 132, 748-750.e3DOI: (10.1016/j.jaci.2013.04.006) Copyright © 2013 American Academy of Allergy, Asthma & Immunology Terms and Conditions

Fig E1 Pedigree of the family. Results of the C1NH mutation analysis and the haplotypes using 8 intragenic different SNPs are presented. Journal of Allergy and Clinical Immunology 2013 132, 748-750.e3DOI: (10.1016/j.jaci.2013.04.006) Copyright © 2013 American Academy of Allergy, Asthma & Immunology Terms and Conditions