Nonsense mutations affect C1 inhibitor messenger RNA levels in patients with type I hereditary angioneurotic edema.

Members of two unrelated families with type I hereditary angioneurotic edema (HANE) were found to have elevated levels of C1 inhibitor (C1INH) mRNA. DNA sequence analysis of PCR-amplified monocyte C1INH mRNA revealed normal and mutant transcripts, as expected in this disorder that occurs in heterozy...

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Pubblicato in:	J Clin Invest
Autori principali:	Frangi, D, Cicardi, M, Sica, A, Colotta, F, Agostoni, A, Davis, A E
Natura:	Artigo
Lingua:	Inglês
Pubblicazione:	American Society for Clinical Investigation 1991
Soggetti:	Research Article
Accesso online:	https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC295456/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/1885769/ https://ncbi.nlm.nih.govhttps://doi.org/10.1172/JCI115373
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