Deep Intronic Mutation in SERPING1 Caused Hereditary Angioedema Through Pseudoexon Activation
Abstract
Hereditary angioedema (HAE) is a rare autosomal dominant life-threatening disease characterized by low levels of C1 inhibitor (type I HAE) or normal levels of ineffective C1 inhibitor (type II HAE), typically occurring as a consequence of a SERPING1 mutation. In some cases, a causal mutation remains undetected after using a standard molecular genetic analysis. Here we show a long methodological way to the final discovery of c.1029 + 384A > G, a...
Paper Details
Title
Deep Intronic Mutation in SERPING1 Caused Hereditary Angioedema Through Pseudoexon Activation
Published Date
Jan 25, 2020
Volume
40
Issue
3
Pages
435 - 446
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