Japanese Researchers Identify New Gene Mutation Linked to HAE

Japanese Researchers Identify New Gene Mutation Linked to HAE

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Japanese Researchers Identify New Gene Mutation Linked to HAE

Japanese researchers have identified a new mutation in the SERPING1 gene linked to hereditary angioedema (HAE) in a 27-year-old woman with a history of recurrent swelling attacks. Her case was described in a report, “Hereditary angioedema with a novel mutation, c.1481G>C, in the SERPING1 gene,” published in the Journal of Cutaneous Immunology and Allergy. HAE types 1 and 2 are caused by the lack of functional C1 inhibitor (C1-INH) protein, as a result of mutations…

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