DISEASE VARIABLES IN HEREDITARY ANGIOEDEMA

$0M01FY2000RRNIH

Scripps Research Institute, La Jolla CA

Investigators

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Abstract

We propose that the observed heterogeneity in clinical expression of C1 inhibitor (C1INH) deficiency can be understood through elucidating the genetic and molecular regulation of C1INH synthesis. This study will characterize the molecular consequences of C1INH mutations and polymorphisms, and evaluate their differing effects on functional C1INH expression and clinical outcome.

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