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Hereditary Angioedema Without C1 Inhibitor Deficiency: Observation Of Patients Homozygous For FXII GENE Mutation

✍ Scribed by Stieber, Christiane; Veronez, Camila; Cagini, Nathalia; Cordeiro, Elisabete; Grumach, Anete S.; Constantino-Silva, Rosemeire; Pesquero, Joao Bosco; Cichon, Sven


Book ID
122255089
Publisher
Elsevier Science
Year
2014
Tongue
English
Weight
44 KB
Volume
133
Category
Article
ISSN
1097-6825

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Hereditary angioedema (HAE) is caused by mutations in the C1 inhibitor gene (SERPING1, C1NH) and the result is C1 inhibitor deficiency, either in levels or function. We have searched exon 8 for mutations by direct sequencing and analyzed the rest of the exons by SSCP in 87 Spanish families affected