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A novel mutation in exon 8 of C1 inhibitor (C1INH) gene leads to abolish its physiological stop codon in a large Chinese family with hereditary angioedema type I

✍ Scribed by Le Qu; Bin Wei; Mei Liu; Lili Zhang; Ting Xiao; Hong-Duo Chen; Li Zhou; Qing-Sheng Mi; Chundi He


Book ID
117963336
Publisher
John Wiley and Sons
Year
2012
Tongue
English
Weight
273 KB
Volume
21
Category
Article
ISSN
0906-6705

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Five novel mutations in the C1 inhibitor
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Communicated by Mark H. Paalman Hereditary angioedema (HAE) is a disorder characterised by recurrent attacks of localized subcutaneous or submucosal edema. It is inherited in an autosomal dominant fashion and caused by a deficiency of C1 inhibitor (C1 inh, or C1NH). Most patients with HAE have an ab