Mendelian Diseases
Multifactorial Diseases
Disease A B C D E F G H I J K L M N O P Q R S T U V W X Y Z [0-9]
Gene A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Angioedema, hereditary, type III

OMIM:610618
Mode of inheritance:Autosomal dominant
Disease classification:Disorders involving the immune mechanism


Mutations

Gene SymbolF12
Reference transcriptNM_000505.3
DNA Changec.983C>A
A.A. Changep.Thr328Lys
Exon/Intronexon 9
Mutation Typesubstitution
ReferenceBaeza ML, Rodr?guez-Marco A, Prieto A, Rodr?guez-Sainz C, Zubeldia JM, Rubio M.Factor XII gene missense mutation Thr328Lys in an Arab family with hereditary angioedema type III.
Allergy. 2011 Jul;66(7):981-2