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...

Täydet tiedot

Bibliografiset tiedot

Julkaisussa:	Proc Natl Acad Sci U S A
Päätekijät:	Bissler, J J, Cicardi, M, Donaldson, V H, Gatenby, P A, Rosen, F S, Sheffer, A L, Davis, A E
Aineistotyyppi:	Artigo
Kieli:	Inglês
Julkaistu:	National Academy of Sciences 1994
Aiheet:	Research Article
Linkit:	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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