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...

תיאור מלא

שמור ב:
מידע ביבליוגרפי
Main Authors: Frangi, D, Cicardi, M, Sica, A, Colotta, F, Agostoni, A, Davis, A E
פורמט: Artigo
שפה:Inglês
יצא לאור: 1991
נושאים:
Research Article
גישה מקוונת:https://ncbi.nlm.nih.gov/pmc/articles/PMC295456/
https://ncbi.nlm.nih.gov/pubmed/1885769
תגים: הוספת תג
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