囊性纤维化跨膜传导调节因子基因第20外显子中的一个新的错义突变（R1283M）。 - Suppr

Suppr

超能文献

A new missense mutation (R1283M) in exon 20 of the cystic fibrosis transmembrane conductance regulator gene.

作者信息

Cheadle J P, Meredith A L, al-Jader L N

机构信息

Institute of Medical Genetics, University of Wales College of Medicine, Cardiff, UK.

出版信息

Hum Mol Genet. 1992 May;1(2):123-5. doi: 10.1093/hmg/1.2.123.

DOI:10.1093/hmg/1.2.123

PMID:1284468

Abstract

摘要

相似文献

A new missense mutation (R1283M) in exon 20 of the cystic fibrosis transmembrane conductance regulator gene.囊性纤维化跨膜传导调节因子基因第20外显子中的一个新的错义突变（R1283M）。

Hum Mol Genet. 1992 May;1(2):123-5. doi: 10.1093/hmg/1.2.123.

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.

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.

A new missense mutation G1249E in exon 20 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene.

Hum Hered. 1994 Jul-Aug;44(4):238-40. doi: 10.1159/000154223.

Identification of a novel missense mutation G239R in exon 6a of the CFTR gene.在CFTR基因第6a外显子中鉴定出一种新的错义突变G239R。

Hum Hered. 1995 Jan-Feb;45(1):53-4. doi: 10.1159/000154255.

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.

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.

A nonsense mutation (R1158X) and a splicing mutation (3849 + 4A----G) in exon 19 of the cystic fibrosis transmembrane conductance regulator gene.囊性纤维化跨膜传导调节因子基因第19外显子中的一个无义突变（R1158X）和一个剪接突变（3849 + 4A----G）。

Genomics. 1992 Feb;12(2):417-8. doi: 10.1016/0888-7543(92)90396-a.

Homozygosity for a novel missense mutation (I175V) in exon 5 of the CFTR gene in a family of Armenian descent.

Hum Mol Genet. 1994 Apr;3(4):661-2. doi: 10.1093/hmg/3.4.661.

G1244V: a novel missense mutation in exon 20 of the CFTR gene in a Bulgarian cystic fibrosis patient.G1244V：保加利亚一名囊性纤维化患者CFTR基因第20外显子中的一种新型错义突变。

Hum Mol Genet. 1994 Mar;3(3):513-4. doi: 10.1093/hmg/3.3.513.

引用本文的文献

Determination of disease phenotypes and pathogenic variants from exome sequence data in the CAGI 4 gene panel challenge.在CAGI 4基因专家组挑战中，从外显子序列数据确定疾病表型和致病变异。

Hum Mutat. 2017 Sep;38(9):1201-1216. doi: 10.1002/humu.23249. Epub 2017 Jun 27.

Sildenafil (Viagra) corrects DeltaF508-CFTR location in nasal epithelial cells from patients with cystic fibrosis.西地那非（万艾可）可纠正囊性纤维化患者鼻上皮细胞中DeltaF508 - 囊性纤维化跨膜传导调节因子（CFTR）的位置。

Thorax. 2005 Jan;60(1):55-9. doi: 10.1136/thx.2003.019778.

P67L: a cystic fibrosis allele with mild effects found at high frequency in the Scottish population.P67L：一种在苏格兰人群中高频发现的、具有轻度效应的囊性纤维化等位基因。

J Med Genet. 1998 Feb;35(2):122-5. doi: 10.1136/jmg.35.2.122.

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.

Mutation analysis of 184 cystic fibrosis families in Wales.威尔士184个囊性纤维化家族的突变分析。

J Med Genet. 1992 Sep;29(9):642-6. doi: 10.1136/jmg.29.9.642.

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