Identification of a C-->T mutation in the reactive-site coding region of the C1-inhibitor gene and its detection by an improved mutation-specific polymerase chain reaction method.

Abstract excerpt

Mutations in the C1-inhibitor (C1-INH) gene, leading to low functional levels of C1-inhibitor protein, cause hereditary angioedema (HAE). The disease is characterized by episodic edema in a number of organs. Typically, swellings occur in extremities and face, often accompanied by crampy abdominal pain. Laryngeal edema may lead to suffocation. Type II HAE patients have low functional C1-INH values stemming from...

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