• 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

K162E - A rare and uncategorized CFTR variant causing cystic fibrosis.

作者信息

Souza Edna Lúcia, Ribeiro Mota Laís, Leite Ferreira de Lima Renata Lúcia, Horejs Bittencourt Paloma, Castro Ribeiro Guedes Virgínia Maria, Salinas Danieli

机构信息

Department of Pediatrics, School of Medicine of Bahia, Federal University of Bahia, Salvador, Brazil; Post-Graduation Program in Interactive Processes of Systems and Organs, Institute of Health Sciences, Federal University of Bahia, Salvador, Brazil; Post-Graduation in Medicine and Health, Federal University of Bahia, Salvador, Brazil; University Hospital Professor Edgard, Federal University of Bahia, Salvador, Brazil.

Post-Graduation Program in Interactive Processes of Systems and Organs, Institute of Health Sciences, Federal University of Bahia, Salvador, Brazil.

出版信息

J Cyst Fibros. 2021 May;20(3):489-491. doi: 10.1016/j.jcf.2020.07.007. Epub 2020 Jul 14.

DOI:10.1016/j.jcf.2020.07.007
PMID:32674983
Abstract
摘要

相似文献

1
K162E - A rare and uncategorized CFTR variant causing cystic fibrosis.K162E - 一种导致囊性纤维化的罕见且未分类的囊性纤维化跨膜传导调节因子变体。
J Cyst Fibros. 2021 May;20(3):489-491. doi: 10.1016/j.jcf.2020.07.007. Epub 2020 Jul 14.
2
Pseudo-Bartter Syndrome in a Chinese Infant with Cystic Fibrosis Caused by c.532G>A Mutation in .一名中国婴儿因CFTR基因c.532G>A突变导致囊性纤维化并发假性巴特综合征
Chin Med J (Engl). 2017 Nov 20;130(22):2771-2772. doi: 10.4103/0366-6999.218015.
3
Molecular Diagnosis of Cystic Fibrosis.囊性纤维化的分子诊断
Curr Protoc Hum Genet. 2016 Jan 1;88:9.28.1-9.28.6. doi: 10.1002/0471142905.hg0928s88.
4
Pseudo-Bartter syndrome as the sole manifestation of cystic fibrosis in a child with 711+G>T/IVS8-5T mutation: a new face of an old disease.伪巴特综合征作为一名携带711+G>T/IVS8-5T突变的儿童囊性纤维化的唯一表现:一种旧疾病的新面孔。
Ann Biol Clin (Paris). 2017 Aug 1;75(4):466-473. doi: 10.1684/abc.2017.1268.
5
Salt depletion syndrome as the initial presentation of cystic fibrosis in a toddler with the rare p.Ala309Gly (A309G) CFTR variant.盐耗竭综合征作为一名患有罕见的p.Ala309Gly(A309G)CFTR变异的幼儿囊性纤维化的初始表现。
Clin Genet. 2016 Aug;90(2):186-7. doi: 10.1111/cge.12733. Epub 2016 Feb 9.
6
Benign and Deleterious Cystic Fibrosis Transmembrane Conductance Regulator Mutations Identified by Sequencing in Positive Cystic Fibrosis Newborn Screen Children from California.通过对加利福尼亚州囊性纤维化新生儿筛查呈阳性的儿童进行测序鉴定出的良性和有害的囊性纤维化跨膜传导调节因子突变
PLoS One. 2016 May 23;11(5):e0155624. doi: 10.1371/journal.pone.0155624. eCollection 2016.
7
Clinical characterization and diagnosis of cystic fibrosis through exome sequencing in Chinese infants with Bartter-syndrome-like hypokalemia alkalosis.通过外显子组测序对中国婴儿巴特综合征样低钾碱中毒进行临床特征分析和诊断。
Front Med. 2018 Oct;12(5):550-558. doi: 10.1007/s11684-017-0567-y. Epub 2018 Mar 9.
8
Genetics of Cystic Fibrosis: Clinical Implications.囊性纤维化的遗传学:临床意义
Clin Chest Med. 2016 Mar;37(1):9-16. doi: 10.1016/j.ccm.2015.11.002. Epub 2015 Dec 24.
9
Phenotypic spectrum and genetic heterogeneity of cystic fibrosis in Sri Lanka.斯里兰卡囊性纤维化的表型谱和基因异质性
BMC Med Genet. 2019 May 24;20(1):89. doi: 10.1186/s12881-019-0815-x.
10
Molecular Genetics of Cystic Fibrosis Transmembrane Conductance Regulator: Genotype and Phenotype.囊性纤维化跨膜传导调节因子的分子遗传学:基因型与表型
Pediatr Clin North Am. 2016 Aug;63(4):585-98. doi: 10.1016/j.pcl.2016.04.002.

引用本文的文献

1
IRT/IRT as a newborn cystic fibrosis screening method: optimal cutoff points for a mixed population.以 IRT/IRT 作为新生儿囊性纤维化的筛查方法:混合人群的最佳截断值。
Cad Saude Publica. 2024 Aug 26;40(7):e00150623. doi: 10.1590/0102-311XEN150623. eCollection 2024.