A rare DNA variant in exon 15 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene.

Suppr

超能文献

作者信息

Chillón M, Palacio A, Nunes V, Estivill X

机构信息

Molecular Genetics Department, Duran Reynals Hospital, L'Hospitalet de Llobregat, Barcelona, Spain.

出版信息

Hum Genet. 1992 Dec;90(4):474. doi: 10.1007/BF00220483.

DOI:10.1007/BF00220483

PMID:1282900

Abstract

摘要

相似文献

A rare DNA variant in exon 15 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene.

Hum Genet. 1992 Dec;90(4):474. doi: 10.1007/BF00220483.

A new polymorphism in exon 7 of the cystic fibrosis transmembrane regulator (CFTR) gene.囊性纤维化跨膜传导调节因子（CFTR）基因第7外显子中的一种新的多态性。

Hum Genet. 1995 Apr;95(4):465-6. doi: 10.1007/BF00208980.

A tetranucleotide repeat polymorphism in the cystic fibrosis gene.囊性纤维化基因中的四核苷酸重复多态性。

Hum Genet. 1991 Apr;86(6):625. doi: 10.1007/BF00201556.

Dinucleotide (CA/GT) repeat polymorphism in intron 17B 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17B内含子中的二核苷酸（CA/GT）重复多态性。

Hum Genet. 1992 Jan;88(3):356. doi: 10.1007/BF00197276.

Detection of novel and rare mutations in exon 4 of the cystic fibrosis gene by SSCP.通过单链构象多态性检测囊性纤维化基因第4外显子中的新型和罕见突变。

Hum Mol Genet. 1992 Sep;1(6):439-40. doi: 10.1093/hmg/1.6.439.

Quantitative expression patterns of multidrug-resistance P-glycoprotein (MDR1) and differentially spliced cystic-fibrosis transmembrane-conductance regulator mRNA transcripts in human epithelia.人上皮细胞中多药耐药P-糖蛋白（MDR1）的定量表达模式及囊性纤维化跨膜传导调节因子mRNA转录本的差异剪接

Eur J Biochem. 1992 May 15;206(1):137-49. doi: 10.1111/j.1432-1033.1992.tb16911.x.

Genetic basis of variable exon 9 skipping in cystic fibrosis transmembrane conductance regulator mRNA.囊性纤维化跨膜传导调节因子mRNA中可变外显子9跳跃的遗传基础。

Nat Genet. 1993 Feb;3(2):151-6. doi: 10.1038/ng0293-151.

Two novel frame-shift mutations: 977 insA in exon 6B, and 4016 insT in exon 21, of the cystic fibrosis transmembrane conductance regulator (CFTR) gene.囊性纤维化跨膜传导调节因子（CFTR）基因的两个新型移码突变：外显子6B中的977位插入A，以及外显子21中的4016位插入T。

Hum Mol Genet. 1993 Mar;2(3):317-9. doi: 10.1093/hmg/2.3.317.

Genomic DNA sequence of the cystic fibrosis transmembrane conductance regulator (CFTR) gene.囊性纤维化跨膜传导调节因子（CFTR）基因的基因组DNA序列。

Genomics. 1991 May;10(1):214-28. doi: 10.1016/0888-7543(91)90503-7.

Identification of a novel nonsense mutation (L88X) in exon 3 of the cystic fibrosis transmembrane conductance regulator gene in a native Korean cystic fibrosis chromosome.

Hum Mutat. 1992;1(6):501-2. doi: 10.1002/humu.1380010608.

引用本文的文献

Intragenic modifiers of hereditary spastic paraplegia due to spastin gene mutations.由痉挛蛋白基因突变引起的遗传性痉挛性截瘫的基因内修饰因子。

Neurogenetics. 2004 Sep;5(3):157-64. doi: 10.1007/s10048-004-0186-z. Epub 2004 Jul 10.

Detection of more than 50 different CFTR mutations in a large group of German cystic fibrosis patients.在一大群德国囊性纤维化患者中检测到50多种不同的囊性纤维化跨膜传导调节因子（CFTR）突变。

Hum Genet. 1994 Nov;94(5):533-42. doi: 10.1007/BF00211022.

本文引用的文献

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.

Genomic DNA sequence of the cystic fibrosis transmembrane conductance regulator (CFTR) gene.囊性纤维化跨膜传导调节因子（CFTR）基因的基因组DNA序列。

Genomics. 1991 May;10(1):214-28. doi: 10.1016/0888-7543(91)90503-7.

文献检索

告别复杂PubMed语法，用中文像聊天一样搜索，搜遍4000万医学文献。AI智能推荐，让科研检索更轻松。

立即免费搜索

文件翻译

保留排版，准确专业，支持PDF/Word/PPT等文件格式，支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述，25分钟生成高质量综述，智能提取关键信息，辅助科研写作。

立即免费体验