High incidence of delta I507 mutation of the CFTR gene in a limited area of the north west of France.
作者信息
Mittre H, Leymarie P, Leporrier N
出版信息
J Med Genet. 1995 Jul;32(7):577. doi: 10.1136/jmg.32.7.577.
Abstract
摘要
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High incidence of delta I507 mutation of the CFTR gene in a limited area of the north west of France.法国西北部有限区域内囊性纤维化跨膜传导调节因子（CFTR）基因ΔI507突变的高发生率。
J Med Genet. 1995 Jul;32(7):577. doi: 10.1136/jmg.32.7.577.
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Age of the delta F508 cystic fibrosis mutation.
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North-west/south-east gradient in delta F508 frequency in Europe.欧洲中δF508频率的西北/东南梯度。
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引用本文的文献
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Correctors of ΔF508 CFTR restore global conformational maturation without thermally stabilizing the mutant protein.ΔF508 CFTR 校正剂恢复了突变蛋白的整体构象成熟，而没有使突变蛋白热稳定化。
FASEB J. 2013 Feb;27(2):536-45. doi: 10.1096/fj.12-216119. Epub 2012 Oct 26.
本文引用的文献
1
Mutation analysis in 600 French cystic fibrosis patients.对600名法国囊性纤维化患者的突变分析。
J Med Genet. 1994 Jul;31(7):541-4. doi: 10.1136/jmg.31.7.541.
2
Identification of the cystic fibrosis gene: chromosome walking and jumping.囊性纤维化基因的鉴定：染色体步移与跳跃
Science. 1989 Sep 8;245(4922):1059-65. doi: 10.1126/science.2772657.
3
Identification of the cystic fibrosis gene: genetic analysis.囊性纤维化基因的鉴定：遗传分析
Science. 1989 Sep 8;245(4922):1073-80. doi: 10.1126/science.2570460.
4
Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA.囊性纤维化基因的鉴定：互补DNA的克隆与特性分析
Science. 1989 Sep 8;245(4922):1066-73. doi: 10.1126/science.2475911.
5
Identification of mutations in regions corresponding to the two putative nucleotide (ATP)-binding folds of the cystic fibrosis gene.在与囊性纤维化基因的两个假定核苷酸（ATP）结合折叠相对应的区域中鉴定突变。
Proc Natl Acad Sci U S A. 1990 Nov;87(21):8447-51. doi: 10.1073/pnas.87.21.8447.
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