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.

Suppr

超能文献

作者信息

Macek M, Hamosh A, Kiesewetter S, McIntosh I, Rosenstein B J, Cutting G R

机构信息

Center for Medical Genetics, Johns Hopkins University School of Medicine, Baltimore, Maryland 21287-3914.

出版信息

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

DOI:10.1002/humu.1380010608

PMID:1284542

Abstract

摘要

相似文献

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.

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.

Identification of a novel missense mutation (G314E) in exon 7 of the cystic fibrosis transmembrane conductance regulator gene identified in a CF patient with pancreatic sufficiency.

Hum Mutat. 1994;3(1):67-8. doi: 10.1002/humu.1380030112.

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 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.

Characterization of an intron 12 splice donor mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene.囊性纤维化跨膜传导调节因子（CFTR）基因内含子12剪接供体突变的特征分析

Hum Mutat. 1992;1(5):380-7. doi: 10.1002/humu.1380010506.

Identification of a novel mutation of CFTR gene in a Korean patient with cystic fibrosis.一名韩国囊性纤维化患者中CFTR基因新突变的鉴定。

J Korean Med Sci. 2008 Oct;23(5):912-5. doi: 10.3346/jkms.2008.23.5.912.

Screening for cystic fibrosis mutations in southern France: identification of a frameshift mutation and two missense variations.法国南部囊性纤维化突变的筛查：一个移码突变和两个错义变异的鉴定。

Hum Mutat. 1992;1(4):310-3. doi: 10.1002/humu.1380010408.

Complex mutation 4114 ATA-->TT in exon 22 of the cystic fibrosis gene CFTR.

Hum Mutat. 1993;2(6):489-91. doi: 10.1002/humu.1380020611.

A cystic fibrosis allele encoding missense mutations in both nucleotide binding folds of the cystic fibrosis transmembrane conductance regulator.一种囊性纤维化等位基因，其在囊性纤维化跨膜传导调节因子的两个核苷酸结合结构域中编码错义突变。

Hum Mutat. 1992;1(3):204-10. doi: 10.1002/humu.1380010305.

引用本文的文献

[Cystic fibrosis primarily presenting with pseudo-Bartter syndrome: a report of three cases and literature review].以假性巴特综合征为主要表现的囊性纤维化：三例报告及文献复习

Zhongguo Dang Dai Er Ke Za Zhi. 2024 May 15;26(5):506-511. doi: 10.7499/j.issn.1008-8830.2310080.

Systematic estimation of cystic fibrosis prevalence in Chinese and genetic spectrum comparison to Caucasians.系统评估中国人囊性纤维化的患病率，并与高加索人进行遗传谱比较。

Orphanet J Rare Dis. 2022 Mar 21;17(1):129. doi: 10.1186/s13023-022-02279-9.

Identification of a novel mutation of CFTR gene in a Korean patient with cystic fibrosis.一名韩国囊性纤维化患者中CFTR基因新突变的鉴定。

J Korean Med Sci. 2008 Oct;23(5):912-5. doi: 10.3346/jkms.2008.23.5.912.

Report of a Korean patient with cystic fibrosis, carrying Q98R and Q220X mutations in the CFTR gene.一名携带CFTR基因Q98R和Q220X突变的韩国囊性纤维化患者的报告。

J Korean Med Sci. 2006 Jun;21(3):563-6. doi: 10.3346/jkms.2006.21.3.563.

Cystic fibrosis with homozygous R553X mutation in a Taiwanese child.一名台湾儿童患有纯合子R553X突变的囊性纤维化。

J Hum Genet. 2005;50(12):674-8. doi: 10.1007/s10038-005-0309-x. Epub 2005 Nov 10.

Independent origins of cystic fibrosis mutations R334W, R347P, R1162X, and 3849 + 10kbC-->T provide evidence of mutation recurrence in the CFTR gene.囊性纤维化突变R334W、R347P、R1162X和3849 + 10kbC→T的独立起源为CFTR基因中的突变复发提供了证据。

Am J Hum Genet. 1994 Nov;55(5):890-8.

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