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The functional promoter F12-46C/T variant predicts the asymptomatic phenotype of C1-INH-HAE [Elektronski vir]
Rijavec, Matija ...
Hereditary angioedema due to C1 inhibitor deficiency (C1-INH-HAE, OMIM 106100) is a rare autosomal dominant disease with few cases of homozygous mutations reported in consanguineous patients, ...characterized by swelling of the face, lips, tongue, larynx, abdomen, genitalia or extremities. It is caused by mutations in the SERPING1 gene, which codes for C1-INH, resulting in low levels of C1-INH (C1-INH-HAE type I, 85% of cases) or normal levels of non-functional C1-INH (C1-INH-HAE type II, 15% of cases).
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