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Article

Normal C1 inhibitor mRNA expression level in type I hereditary angioedema patients: newly found C1 inhibitor gene mutations.

Allergy - 1 Feb 2006

Kang H R, Yim E Y, Oh S Y, Chang Y S, Kim Y K, Cho S H, Min K U, Kim Y Y

Abstract excerpt

BACKGROUND: C1 esterase inhibitor (C1INH) plays a key role in the classical pathway of the complement cascade. Mutations in this gene cause a decreased level of antigenic (type I hereditary angioedema, HAE) or functional (type II HAE) C1INH. OBJECTIVE: To find novel mutations in C1INH and evaluate the expression of C1INH gene in HAE patients. METHODS: Direct sequencing mutation analysis was performed for genomic...

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Identifiers

PMID: 16409206
DOI: 10.1111/j.1398-9995.2006.01010.x

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