• 文献检索
  • 文档翻译
  • 深度研究
  • 学术资讯
  • Suppr Zotero 插件Zotero 插件
  • 邀请有礼
  • 套餐&价格
  • 历史记录
应用&插件
Suppr Zotero 插件Zotero 插件浏览器插件Mac 客户端Windows 客户端微信小程序
定价
高级版会员购买积分包购买API积分包
服务
文献检索文档翻译深度研究API 文档MCP 服务
关于我们
关于 Suppr公司介绍联系我们用户协议隐私条款
关注我们

Suppr 超能文献

核心技术专利：CN118964589B侵权必究
粤ICP备2023148730 号-1Suppr @ 2026

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

Novel missense mutation (G314R) in a cystic fibrosis patient with hepatic failure.

作者信息

Nasr S Z, Strong T V, Mansoura M K, Dawson D C, Collins F S

机构信息

Department of Pediatrics, University of Michigan, Ann Arbor 48109, USA.

出版信息

Hum Mutat. 1996;7(2):151-4. doi: 10.1002/(SICI)1098-1004(1996)7:2<151::AID-HUMU10>3.0.CO;2-1.

DOI:10.1002/(SICI)1098-1004(1996)7:2<151::AID-HUMU10>3.0.CO;2-1
PMID:8829633
Abstract
摘要

相似文献

1
Novel missense mutation (G314R) in a cystic fibrosis patient with hepatic failure.
Hum Mutat. 1996;7(2):151-4. doi: 10.1002/(SICI)1098-1004(1996)7:2<151::AID-HUMU10>3.0.CO;2-1.
2
Cystic fibrosis mice carrying the missense mutation G551D replicate human genotype-phenotype correlations.
EMBO J. 1996 Mar 1;15(5):955-63.
3
Approaches for cystic fibrosis diagnosis.囊性纤维化的诊断方法。
Hum Reprod. 1997 Nov;12(11 Suppl):166-9.
4
Novel mutation (A141D) in exon 4 of the CFTR gene identified in an Algerian patient.
Hum Mutat. 1997;10(1):86-7. doi: 10.1002/(SICI)1098-1004(1997)10:1<86::AID-HUMU15>3.0.CO;2-W.
5
Screening for CF mutations in adult cystic fibrosis patients with a directed and optimized SSCP strategy.采用定向优化的单链构象多态性（SSCP）策略对成年囊性纤维化患者进行CF基因突变筛查。
Hum Mutat. 1994;3(3):231-8. doi: 10.1002/humu.1380030309.
6
Expression of delta F508 cystic fibrosis transmembrane conductance regulator protein and related chloride transport properties in the gallbladder epithelium from cystic fibrosis patients.囊性纤维化患者胆囊上皮中δF508囊性纤维化跨膜传导调节蛋白的表达及相关氯离子转运特性
Hepatology. 1999 Jun;29(6):1624-34. doi: 10.1002/hep.510290634.
7
Novel de novo large deletion in cystic fibrosis transmembrane conductance regulator gene results in a severe cystic fibrosis phenotype.新型囊性纤维化跨膜电导调节因子基因从头大缺失导致严重的囊性纤维化表型。
J Pediatr. 2011 Aug;159(2):343-6.e1. doi: 10.1016/j.jpeds.2011.04.022. Epub 2011 Jun 12.
8
Identification of a novel mutation (525del T) in exon 4 of the CFTR gene in a patient with cystic fibrosis.
Hum Mutat. 1999 Oct;14(4):357. doi: 10.1002/(SICI)1098-1004(199910)14:4<357::AID-HUMU21>3.0.CO;2-9.
9
Cystic fibrosis transmembrane regulator haplotypes in households of patients with cystic fibrosis.囊性纤维化患者家庭中的囊性纤维化跨膜传导调节因子单倍型
Gene. 2018 Jan 30;641:137-143. doi: 10.1016/j.gene.2017.10.052. Epub 2017 Oct 18.
10
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.

引用本文的文献

1
Cystic fibrosis transmembrane conductance regulator (CFTR) anion binding as a probe of the pore.囊性纤维化跨膜传导调节因子（CFTR）阴离子结合作为孔道的一种探针。
Biophys J. 1998 Mar;74(3):1320-32. doi: 10.1016/S0006-3495(98)77845-2.
2
Cystic fibrosis transmembrane conductance regulator. Permeant ions find the pore.囊性纤维化跨膜传导调节因子。可渗透离子找到通道。
J Gen Physiol. 1997 Oct;110(4):337-9. doi: 10.1085/jgp.110.4.337.