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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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Detalhes bibliográficos
Main Authors: Frangi, D, Cicardi, M, Sica, A, Colotta, F, Agostoni, A, Davis, A E
Formato: Artigo
Idioma:Inglês
Publicado em: 1991
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC295456/
https://ncbi.nlm.nih.gov/pubmed/1885769
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