囊性纤维化跨膜传导调节因子（CFTR）基因第9外显子之前的严重剪接位点突变。 - Suppr

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超能文献

Severe splice site mutation preceding exon 9 of the CFTR gene.

作者信息

Dörk T, Fislage R, Rappen U, Tümmler B

机构信息

Klinische Forschergruppe Molekulare Pathologie der Mukoviszidose, OE 6710, Medizinische Hochschule Hannover, Germany.

出版信息

Hum Mol Genet. 1993 Aug;2(8):1313-4. doi: 10.1093/hmg/2.8.1313.

DOI:10.1093/hmg/2.8.1313

PMID:7691349

Abstract

摘要

相似文献

Severe splice site mutation preceding exon 9 of the CFTR gene.囊性纤维化跨膜传导调节因子（CFTR）基因第9外显子之前的严重剪接位点突变。

Hum Mol Genet. 1993 Aug;2(8):1313-4. doi: 10.1093/hmg/2.8.1313.

Homozygosity for a novel splice site mutation (2790-2 A--->G) preceding exon 15 of the CFTR gene in a cystic fibrosis patient of North-East Italian descent.

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A novel cystic fibrosis mutation, Y109C, in the first transmembrane domain of CFTR.

Hum Mol Genet. 1994 Jun;3(6):1001-2. doi: 10.1093/hmg/3.6.1001.

A novel donor splice site in intron 11 of the CFTR gene, created by mutation 1811+1.6kbA-->G, produces a new exon: high frequency in Spanish cystic fibrosis chromosomes and association with severe phenotype.CFTR基因第11内含子中的一个新型供体剪接位点，由1811 + 1.6kbA→G突变产生，形成一个新外显子：在西班牙囊性纤维化染色体中高频出现并与严重表型相关。

Am J Hum Genet. 1995 Mar;56(3):623-9.

Identification of a new splice site mutation (3849 + 1G-->A) in the intron 19 of the CFTR gene.

Hum Mol Genet. 1993 Dec;2(12):2171-2. doi: 10.1093/hmg/2.12.2171.

Identification of a 31-bp insertion (3860ins31) in exon 20 of the cystic fibrosis (CFTR) gene.在囊性纤维化（CFTR）基因第20外显子中鉴定出一个31碱基对的插入（3860ins31）。

Hum Mol Genet. 1993 Aug;2(8):1317-8. doi: 10.1093/hmg/2.8.1317.

A donor splice mutation (405 + 1 G-->A) in cystic fibrosis associated with exon skipping in epithelial CFTR mRNA.

Hum Mol Genet. 1993 Nov;2(11):1965-6. doi: 10.1093/hmg/2.11.1965.

A novel nonsense mutation identified in the first nucleotide binding fold of the CFTR gene in a Greek patient.

Hum Mol Genet. 1994 Oct;3(10):1887-8. doi: 10.1093/hmg/3.10.1887.

Cystic fibrosis transmembrane conductance regulator splice variants are not conserved and fail to produce chloride channels.囊性纤维化跨膜传导调节因子剪接变体不保守，无法产生氯离子通道。

Nat Genet. 1993 Aug;4(4):426-31. doi: 10.1038/ng0893-426.

Two novel mutations in the transmembrane domains of the CFTR gene in subjects of Sardinian descent.

Hum Mol Genet. 1993 Oct;2(10):1739-40. doi: 10.1093/hmg/2.10.1739.

引用本文的文献

Geographic distribution and origin of CFTR mutations in Germany.

Hum Genet. 1996 Jun;97(6):727-31. doi: 10.1007/BF02346181.

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.

Exon 9 of the CFTR gene: splice site haplotypes and cystic fibrosis mutations.CFTR基因的第9外显子：剪接位点单倍型与囊性纤维化突变

Hum Genet. 1994 Jan;93(1):67-73. doi: 10.1007/BF00218916.

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