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Article

Mutations in the C1 inhibitor gene that result in hereditary angioneurotic edema.

Behring Institute Mitteilungen - 1 Dec 1993

Davis A E, Bissler J J, Cicardi M

Abstract excerpt

Mutations in one C1 INH allele result in the autosomal dominant disease, hereditary angioedema. The plasma antigenic level of C1 INH in this disease may be low, normal, or high, while the functional level is uniformly depressed. Investigation of the mutations in the C1 INH gene reveal several key features about the DNA itself as well as protein structure-function relationships. The largest single group of...

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PMID: 8172583

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A review of the reported defects in the human C1 esterase inhibitor gene producing hereditary angioedema including four new mutations.Semantic proximity Read ↗

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