EFFECT OF MUTATIONS IN THE CFTR GENE ON COURSE OF CYSTIC FIBROSIS IN CHILDREN
- 作者: Sergienko D1, Bashkina O1, M Galimzianov -1, Sergienko D.F.1, Bashkina O.A.1, Galimzyanov K.M.1
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隶属关系:
- 期: 编号 18-19 (2010)
- 页面: 70-72
- 栏目: Articles
- URL: https://journals.eco-vector.com/2073-4034/article/view/278712
- ID: 278712
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The genetic study performed in 132 patients with cystic fibrosis. We surveyed patients with cystic fibrosis the most frequent mutation F508del (83,3 %), CFTRdele2,3(21kb) (7,6 %). For carriers of the mutation F508del homo- or heterozygous state, characterized by the predominance of mixed forms, as well as rapid progression of bronchopulmonary process, frequent and early infection with gram-negative flora and the formation of severe liver disease. In patients with mild genotype disease is more favorable than in patients with severemutations.
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