Identification of a frameshift mutation (1609delCA) in exon 10 of the CFTR gene in seven Spanish cystic fibrosis patients.

Suppr

超能文献

作者信息

Chillón M, Palacio A, Nunes V, Casals T, Giménez J, Estivill X

机构信息

Molecular Genetics Department, Duran i Reynals Hospital, Barcelona, Spain.

出版信息

Hum Mutat. 1992;1(1):75-6. doi: 10.1002/humu.1380010113.

DOI:10.1002/humu.1380010113

PMID:1284477

Abstract

摘要

相似文献

Identification of a frameshift mutation (1609delCA) in exon 10 of the CFTR gene in seven Spanish cystic fibrosis patients.

Hum Mutat. 1992;1(1):75-6. doi: 10.1002/humu.1380010113.

Identification of a new frameshift mutation (3724 delG) in exon 19 of the CFTR gene.在囊性纤维化跨膜传导调节因子（CFTR）基因第19外显子中鉴定出一种新的移码突变（3724delG）。

Hum Mutat. 1994;3(1):69-70. doi: 10.1002/humu.1380030113.

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

Hum Mutat. 1994;3(3):330-2. doi: 10.1002/humu.1380030329.

Molecular characterization of a frameshift mutation in exon 19 of the CFTR gene.囊性纤维化跨膜传导调节因子（CFTR）基因第19外显子移码突变的分子特征分析

Hum Mutat. 1993;2(5):422-4. doi: 10.1002/humu.1380020517.

A new frameshift mutation 460delG in exon 4 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene.囊性纤维化跨膜传导调节因子（CFTR）基因第4外显子中的一个新的移码突变460delG。

Hum Mutat. 1996;7(2):183. doi: 10.1002/humu.1380070203.

Identification of a CFTR frameshift mutation (1013 delAA) in trans to delta F508 in a pancreatic sufficient cystic fibrosis patient.

Hum Mol Genet. 1994 Nov;3(11):2063-4.

Identification of six mutations (R31L, 441delA, 681delC, 1461ins4, W1089R, E1104X) in the cystic fibrosis transmembrane conductance regulator (CFTR) gene.在囊性纤维化跨膜传导调节因子（CFTR）基因中鉴定出六种突变（R31L、441delA、681delC、1461ins4、W1089R、E1104X）。

Hum Mutat. 1995;5(1):43-7. doi: 10.1002/humu.1380050106.

Analysis of the CFTR gene in the Spanish population: SSCP-screening for 60 known mutations and identification of four new mutations (Q30X, A120T, 1812-1 G-->A, and 3667del4).西班牙人群中CFTR基因的分析：对60种已知突变进行单链构象多态性筛查并鉴定出四种新突变（Q30X、A120T、1812-1 G→A和3667del4）。

Hum Mutat. 1994;3(3):223-30. doi: 10.1002/humu.1380030308.

A novel exon in the cystic fibrosis transmembrane conductance regulator gene activated by the nonsense mutation E92X in airway epithelial cells of patients with cystic fibrosis.囊性纤维化跨膜传导调节因子基因中的一个新外显子，由囊性纤维化患者气道上皮细胞中的无义突变E92X激活。

J Clin Invest. 1994 Apr;93(4):1852-9. doi: 10.1172/JCI117172.

Novel frameshift mutation in exon 4 of CFTR gene.

Hum Mutat. 1995;5(2):184-5. doi: 10.1002/humu.1380050215.

引用本文的文献

Mutant CFTR Drives TWIST1 mediated epithelial-mesenchymal transition.突变 CFTR 驱动 TWIST1 介导的上皮-间充质转化。

Cell Death Dis. 2020 Oct 26;11(10):920. doi: 10.1038/s41419-020-03119-z.

Molecular basis of cystic fibrosis disease: an Indian perspective.囊性纤维化疾病的分子基础：印度视角

Indian J Clin Biochem. 2010 Oct;25(4):335-41. doi: 10.1007/s12291-010-0091-1. Epub 2010 Nov 19.

Acceptor splice site mutation in the invariant AG of intron 5 of the protein C gene, causing type I protein C deficiency.

Hum Genet. 1993 Nov;92(5):506-8. doi: 10.1007/BF00216459.

文献AI研究员

20分钟写一篇综述，助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型，支持多种主流文档格式。

立即体验