Characterization of a partial exon 9/intron 9 deletion in the coagulation factor XII gene (F12) detected in two Turkish families with hereditary angioedema and normal C1 inhibitor-Reference-Cited by-同舟云学术

Characterization of a partial exon 9/intron 9 deletion in the coagulation factor XII gene (F12) detected in two Turkish families with hereditary angioedema and normal C1 inhibitor

Published:2014-08-12 Issue:5 Volume:20 Page:e372-e375
ISSN:1351-8216
Container-title:Haemophilia
language:en
Short-container-title:Haemophilia

Author:

Bork K.¹,Wulff K.²,Hardt J.³,Witzke G.¹,Lohse P.⁴

Affiliation:

1. Department of Dermatology; Johannes Gutenberg University; Mainz Germany

2. University Medicine; Ernst Moritz Arndt University; Greifswald Germany

3. Department of Medical Psychology and Medical Sociology; Johannes Gutenberg University; Mainz Germany

4. Institute of Laboratory Medicine and Human Genetics; Singen Germany

Publisher

Wiley

Subject

Genetics(clinical),Hematology,General Medicine

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/hae.12519/fullpdf

Reference10 articles.

1. Hereditary angioedema with normal C1-inhibitor activity in women;Bork;Lancet,2000

2. Missense mutations in the coagulation factor XII (Hageman factor) gene in hereditary angioedema with normal C1 inhibitor;Dewald;Biochem Biophys Res Commun,2006

3. Hereditary angioedema with normal C1 inhibitor;Bork;Immunol Allergy Clin N Am,2013

4. A novel mutation in the coagulation factor 12 gene in subjects with hereditary angioedema and normal C1-inhibitor;Bork;Clin Immunol,2011

5. Novel duplication in the F12 gene in a patient with recurrent angioedema;Kiss;Clin Immunol,2013

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2. Gene Mutations Linked to Hereditary Angioedema in Solitary Angioedema Patients With Normal C1 Inhibitor;The Journal of Allergy and Clinical Immunology: In Practice;2023-08

3. Biochemistry, molecular genetics, and clinical aspects of hereditary angioedema with and without C1 inhibitor deficiency;Allergology International;2023-07

4. Novel hereditary angioedema linked with a heparan sulfate 3-O-sulfotransferase 6 gene mutation;Journal of Allergy and Clinical Immunology;2021-10

5. The Genetics of Hereditary Angioedema: A Review;Journal of Clinical Medicine;2021-05-09