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Molecular Genetics Progress of Hereditary Angioedema

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Author:
No author available
Journal Title:
INTERNATIONAL JOURNAL OF DERMATOLOGY AND VENEREOLOGY
Issue:
5
DOI:
10.3760/cma.j.issn.1673-4173.2006.05.014
Key Word:
血管神经性水肿;C1INH;基因;突变

Abstract: 遗传性血管性水肿是由C1酯酶抑制剂基因突变所致的一种罕见的常染色体显性遗传性疾病.临床表现为发作性、局限性皮肤或黏膜水肿.致病基因定位于11q11-q13.1,迄今共发现183个突变.近年来对C1酯酶抑制剂基因结构、C1酯酶抑制剂生物学功能、基因突变有了深入的认识,并构建了该病的动物模型.

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