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

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 discover...

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Pubblicato in:	Proc Natl Acad Sci U S A
Autori principali:	Bissler, J J, Cicardi, M, Donaldson, V H, Gatenby, P A, Rosen, F S, Sheffer, A L, Davis, A E
Natura:	Artigo
Lingua:	Inglês
Pubblicazione:	National Academy of Sciences 1994
Soggetti:	Research Article
Accesso online:	https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC44865/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/7937817/ https://ncbi.nlm.nih.govhttps://doi.org/10.1073/pnas.91.20.9622
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