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Cystic fibrosis. Complementary endeavours.

作者信息

Davies K

出版信息

Nature. 1990 Nov 8;348(6297):110-1. doi: 10.1038/348110a0.

DOI:10.1038/348110a0
PMID:1700302
Abstract
摘要

相似文献

1
Cystic fibrosis. Complementary endeavours.
Nature. 1990 Nov 8;348(6297):110-1. doi: 10.1038/348110a0.
2
Population variation of common cystic fibrosis mutations. The Cystic Fibrosis Genetic Analysis Consortium.常见囊性纤维化突变的人群变异。囊性纤维化基因分析联盟。
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Cystic fibrosis. The mutant protein responds.囊性纤维化。突变蛋白产生反应。
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Cystic fibrosis mice.囊性纤维化小鼠。
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[The cystic fibrosis gene: mutation and the function of CFTR protein].[囊性纤维化基因：CFTR蛋白的突变与功能]
Ann Pediatr (Paris). 1991 Nov;38(9):591-4.
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Complex mutation 4114 ATA-->TT in exon 22 of the cystic fibrosis gene CFTR.
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Cystic fibrosis.囊性纤维化
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Age of the delta F508 cystic fibrosis mutation.
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Cystic fibrosis. Channelling our thoughts.
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Identification of four new mutations in the cystic fibrosis transmembrane conductance regulator gene: I148T, L1077P, Y1092X, 2183AA-->G.囊性纤维化跨膜传导调节因子基因中四个新突变的鉴定：I148T、L1077P、Y1092X、2183AA→G
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引用本文的文献

1
A novel method for the parallel analysis of multiple mutations in multiple samples.一种用于对多个样本中的多个突变进行平行分析的新方法。
Nucleic Acids Res. 1993 May 11;21(9):2269-70. doi: 10.1093/nar/21.9.2269.
2
Mutational analysis of the yeast a-factor transporter STE6, a member of the ATP binding cassette (ABC) protein superfamily.酵母α-因子转运蛋白STE6的突变分析，STE6是ATP结合盒（ABC）蛋白超家族的成员之一。
EMBO J. 1991 Dec;10(12):3777-85. doi: 10.1002/j.1460-2075.1991.tb04947.x.
3
Methods for analysis of multiple cystic fibrosis mutations.
多种囊性纤维化突变的分析方法。
Hum Genet. 1991 Sep;87(5):613-7. doi: 10.1007/BF00209023.
4
Sequence analysis of the cystic fibrosis gene in patients with disseminated bronchiectatic lung disease. Application in the identification of a cystic fibrosis patient with atypical clinical course.
Klin Wochenschr. 1991 Sep 16;69(14):657-63. doi: 10.1007/BF01649427.
5
Expression of the cystic fibrosis transmembrane conductance regulator gene in cells of non-epithelial origin.囊性纤维化跨膜传导调节因子基因在非上皮来源细胞中的表达。
Nucleic Acids Res. 1991 Oct 11;19(19):5417-23. doi: 10.1093/nar/19.19.5417.
6
Variable deletion of exon 9 coding sequences in cystic fibrosis transmembrane conductance regulator gene mRNA transcripts in normal bronchial epithelium.正常支气管上皮中囊性纤维化跨膜传导调节因子基因mRNA转录本中外显子9编码序列的可变缺失。
EMBO J. 1991 Jun;10(6):1355-63. doi: 10.1002/j.1460-2075.1991.tb07655.x.
7
Screening for five mutations detects 97% of cystic fibrosis (CF) chromosomes and predicts a carrier frequency of 1:29 in the Jewish Ashkenazi population.对五种突变进行筛查可检测出97%的囊性纤维化（CF）染色体，并预测在犹太阿什肯纳兹人群中携带者频率为1:29。
Am J Hum Genet. 1992 Nov;51(5):951-6.
8
Extensive posttranscriptional deletion of the coding sequences for part of nucleotide-binding fold 1 in respiratory epithelial mRNA transcripts of the cystic fibrosis transmembrane conductance regulator gene is not associated with the clinical manifestations of cystic fibrosis.囊性纤维化跨膜传导调节因子基因的呼吸道上皮mRNA转录本中核苷酸结合折叠区1部分编码序列的广泛转录后缺失与囊性纤维化的临床表现无关。
J Clin Invest. 1992 Sep;90(3):785-90. doi: 10.1172/JCI115952.
9
Expression of the human cystic fibrosis transmembrane conductance regulator gene in the mouse lung after in vivo intratracheal plasmid-mediated gene transfer.体内气管内质粒介导的基因转移后人类囊性纤维化跨膜传导调节基因在小鼠肺中的表达。
Nucleic Acids Res. 1992 Jun 25;20(12):3233-40. doi: 10.1093/nar/20.12.3233.
10
The spectrum of CFTR mutations in south-west German cystic fibrosis patients.德国西南部囊性纤维化患者的CFTR基因突变谱
Hum Genet. 1992 Nov;90(3):267-9. doi: 10.1007/BF00220076.