A novel mutation in the coagulation factor 12 gene in subjects with hereditary angioedema and normal C1-inhibitor
K Bork, K Wulff, P Meinke, N Wagner, J Hardt… - Clinical …, 2011 - Elsevier
In hereditary angioedema with normal C1-inhibitor two different missense mutations of
codon p. Thr328* in the coagulation factor 12 gene have been reported in some families. In
this study a novel factor 12 gene mutation, the deletion of 72 base pairs (bp)(c. 971_1018+
24del72*), was identified in a family of Turkish origin, in two sisters with recurrent skin
swellings and abdominal pain attacks and in their symptom-free father. This deletion caused
a loss of 48bp of exon 9 (coding amino acids 324* to 340*) in addition to 24bp of intron 9 …
codon p. Thr328* in the coagulation factor 12 gene have been reported in some families. In
this study a novel factor 12 gene mutation, the deletion of 72 base pairs (bp)(c. 971_1018+
24del72*), was identified in a family of Turkish origin, in two sisters with recurrent skin
swellings and abdominal pain attacks and in their symptom-free father. This deletion caused
a loss of 48bp of exon 9 (coding amino acids 324* to 340*) in addition to 24bp of intron 9 …