A mutation unique in serine protease inhibitors (serpins) identified in a family with type II hereditary angioneurotic edema.

BACKGROUND: Hereditary angioneurotic edema (HANE) is an autosomal dominant disease due to genetic alterations at the C1 inhibitor gene. Mutations within the C1 inhibitor gene are responsible for the molecular defect in type II HANE. Most of the dysfunctional proteins result from mutations involving...

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Main Authors: Ocejo-Vinyals, J. G., Leyva-Cobián, F., Fernández-Luna, J. L.
Format: Artigo
Sprog:Inglês
Udgivet: The Feinstein Institute for Medical Research 1995
Fag:
Research Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC2229981/
https://ncbi.nlm.nih.gov/pubmed/8529136
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