Recurrent European missense mutation in the F12 gene in a British family with type III hereditary angioedema

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Bibliographic Details
Published in:Journal of dermatological science 2009-10, Vol.56 (1), p.62-64
Main Authors: Nagy, Nikoletta, Greaves, Malcolm W, Tanaka, Akio, McGrath, John A, Grattan, Clive E
Format: Article
Language:English
Subjects:
Amino Acid Substitution - genetics
Angioedemas, Hereditary - genetics
Angioedemas, Hereditary - metabolism
Bradykinin
Coagulation factor XII
Complement C1 Inactivator Proteins - genetics
Complement C1 Inactivator Proteins - metabolism
Complement C1 Inhibitor Protein
Dermatology
Exons - genetics
Factor XII - genetics
Factor XII - metabolism
Female
Genetic disease
Humans
Kallikreins - metabolism
Male
Mutation, Missense - genetics
Oedema
Pedigree
Skin
United Kingdom
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ISSN:0923-1811
1873-569X
DOI:10.1016/j.jdermsci.2009.06.013