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Molecular genetics of C1 inhibitor.

Immunobiology - 1 Aug 1998

Tosi M

Abstract excerpt

More than 100 different C1 inhibitor gene mutations have been described in hereditary angioedema (HAE) patients. Sixty-nine mutations have been reported in patients with the quantitative C1 inhibitor defect (type 1 HAE) in two recent large-scale studies. These changes were found distributed over all exons and exon/intron boundaries. The molecular defects can be divided as follows: Alu-repeat-mediated deletions or...

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PMID: 9777419
DOI: 10.1016/S0171-2985(98)80040-5

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Molecular genetics of C1 inhibitor.PMID 9777419Read ↗

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Systematic Approach Revealed SERPING1 Splicing-Affecting Variants to be Highly Represented in the Czech National HAE CohortSemantic proximity Read ↗

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