Article
A large heterozygous deletion including the entire C1 inhibitor gene in a sporadic case of hereditary angio-oedema.
Clinical and experimental dermatology - 1 Jan 2012
Iwamoto K, Tanaka A, Kawai M, Ishii K, Mihara S, Hide M
Abstract excerpt
C1 inhibitor (C1-INH) deficiency [hereditary or acquired angio-oedema (HAE or AAE)] is characterized by recurring episodes of subcutaneous or submucosal oedema. Many different mutations in the C1-INH gene have been identified as a cause of HAE. We investigated the molecular basis of the disease in a Japanese woman with sporadic HAE. Direct sequencing of genomic DNA revealed no point mutation in the C1-INH gene....
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