• 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

相似文献

1
Identification of the cystic fibrosis gene.囊性纤维化基因的鉴定。
BMJ. 1990 Feb 10;300(6721):345-6. doi: 10.1136/bmj.300.6721.345.
2
Molecular diagnosis (1).分子诊断(1)
N Engl J Med. 1995 May 4;332(18):1218-20. doi: 10.1056/NEJM199505043321808.
3
Rapid screening for delta F508 deletion in cystic fibrosis.囊性纤维化中ΔF508缺失的快速筛查。
Lancet. 1989 Dec 2;2(8675):1345-6.
4
Medical genetics.医学遗传学
Postgrad Med J. 1991 Jul;67(789):613-31. doi: 10.1136/pgmj.67.789.613.
5
[Chromosomal deviations in subfertile men and their partners is often not a reason to refrain from intracytoplasmic sperm injection].[染色体异常在男性和其伴侣生育力低下时,往往不是拒绝卵胞浆内单精子注射的理由]
Ned Tijdschr Geneeskd. 1999 Sep 11;143(37):1893-4.
6
Homozygous nonsense mutation causing cystic fibrosis with uniparental disomy.纯合无义突变导致囊性纤维化伴单亲二体。
Am J Hum Genet. 1991 Jun;48(6):1213.
7
A genetic study of cystic fibrosis of the pancreas in cell culture.胰腺囊性纤维化的细胞培养基因研究。
Trans Assoc Am Physicians. 1969;82:248-52.
8
[Research on the depistage of heterozygote in cystic fibrosis of the pancreas].[胰腺囊性纤维化杂合子的检测研究]
Minerva Med. 1972 Dec 1;63(86):4684-6.
9
An Algerian child homozygous for the M470V polymorphism and for a deletion of two nucleotides in exon 10 of the CFTR gene, shows severe cystic fibrosis symptoms.一名阿尔及利亚儿童,其CFTR基因第10外显子的M470V多态性纯合且有两个核苷酸缺失,表现出严重的囊性纤维化症状。
Genet Couns. 1992;3(4):205-7.
10
[Hereditability and epidemiology of cystic fibrosis (mucoviscidosis)].[囊性纤维化(黏液黏稠症)的遗传力与流行病学]
Ned Tijdschr Geneeskd. 1979 Jun 16;123(24):1020-7.

引用本文的文献

1
Identification of the cystic fibrosis gene.囊性纤维化基因的鉴定。
BMJ. 1990 Mar 24;300(6727):812. doi: 10.1136/bmj.300.6727.812.
2
Cystic fibrosis: current survival and population estimates to the year 2000.囊性纤维化:截至2000年的当前生存率及人口估计
Thorax. 1991 Dec;46(12):881-5. doi: 10.1136/thx.46.12.881.

本文引用的文献

1
A polymorphic DNA marker linked to cystic fibrosis is located on chromosome 7.
Nature. 1985;318(6044):380-2. doi: 10.1038/318380a0.
2
Linkage relationships of paraoxonase (PON) with other markers: indication of PON-cystic fibrosis synteny.
Clin Genet. 1985 Oct;28(4):265-71. doi: 10.1111/j.1399-0004.1985.tb00400.x.
3
Implications of the new genetics for screening for cystic fibrosis.新遗传学对囊性纤维化筛查的影响。
Lancet. 1988 Sep 17;2(8612):672-4. doi: 10.1016/s0140-6736(88)90479-5.
4
Lineage-specific expression of a human beta-globin gene in murine bone marrow transplant recipients reconstituted with retrovirus-transduced stem cells.用逆转录病毒转导的干细胞重建的小鼠骨髓移植受者中人类β-珠蛋白基因的谱系特异性表达。
Nature. 1988 Jan 7;331(6151):35-41. doi: 10.1038/331035a0.
5
Carrier screening in CF.囊性纤维化的携带者筛查
Nature. 1989 Nov 9;342(6246):131. doi: 10.1038/342131a0.
6
Cystic fibrosis: steady steps lead to the gene.囊性纤维化:稳步迈向致病基因的探索之路
Nature. 1989 Sep 14;341(6238):102-3. doi: 10.1038/341102a0.
7
Identification of the cystic fibrosis gene: chromosome walking and jumping.囊性纤维化基因的鉴定:染色体步移与跳跃
Science. 1989 Sep 8;245(4922):1059-65. doi: 10.1126/science.2772657.
8
Carrier screening for cystic fibrosis.囊性纤维化的携带者筛查。
Lancet. 1989 Oct 21;2(8669):973-4. doi: 10.1016/s0140-6736(89)90975-6.
9
Identification of the cystic fibrosis gene: genetic analysis.囊性纤维化基因的鉴定:遗传分析
Science. 1989 Sep 8;245(4922):1073-80. doi: 10.1126/science.2570460.
10
Uptake of presymptomatic predictive testing for Huntington's disease.亨廷顿舞蹈症症状前预测性检测的接受情况。
Lancet. 1989 Sep 9;2(8663):603-5. doi: 10.1016/s0140-6736(89)90722-8.

Identification of the cystic fibrosis gene.

作者信息

Knight R A, Hodson M E

机构信息

Department of Cystic Fibrosis, National Heart and Lung Institute, London.

出版信息

BMJ. 1990 Feb 10;300(6721):345-6. doi: 10.1136/bmj.300.6721.345.

DOI:10.1136/bmj.300.6721.345
PMID:2106981
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1662135/
Abstract
摘要