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Article

A cluster of mutations within a short triplet repeat in the C1 inhibitor gene.

Proceedings of the National Academy of Sciences of the United States of America - 27 Sept 1994

Bissler J J, Cicardi M, Donaldson V H, Gatenby P A, Rosen F S, Sheffer A L, Davis A E

Abstract excerpt

Mutations in the C1 inhibitor gene that result in low functional levels of C1 inhibitor protein cause hereditary angioneurotic edema. This disease is characterized by episodic edema leading to considerable morbidity and death. Among 60 unreported kindred with the disease, four patients were discovered to have mutations clustered within a 12-bp segment of exon 5 from nucleotide 8449 to nucleotide 8460. This short...

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Identifiers

PMID: 7937817
DOI: 10.1073/pnas.91.20.9622
PMCID: PMC44865

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