Spectrum of Mutations in the CFTR Gene in Cystic Fibrosis Patients of Spanish Ancestry
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1469-1809.2006.00310.x/fullpdf
Reference34 articles.
1. Genomic rearrangements in theCFTRgene: Extensive allelic heterogeneity and diverse mutational mechanisms
2. Molecular Analysis in Brazilian Cystic Fibrosis Patients Reveals Five Novel Mutations
3. Frequency of large CFTR gene rearrangements in Italian CF patients
4. Analysis of the complete coding region of the CFTR gene in a cohort of CF patients from North-Eastern Italy: identification of 90% of the mutations
5. Molecular and clinical analyses of cystic fibrosis in the South of Spain
Cited by 50 articles. 订阅此论文施引文献 订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献
1. Diagnosis of cystic fibrosis: a high heterogeneity of symptoms and genotypes in a Brazil population;BMC Pediatrics;2024-07-01
2. Elevated Prostaglandin E2 Synthesis Is Associated with Clinical and Radiological Disease Severity in Cystic Fibrosis;Journal of Clinical Medicine;2024-04-02
3. Identification and in silico structural analysis for the first de novo mutation in the cystic fibrosis transmembrane conductance regulator protein in Iran: case report and developmental insight using microsatellite markers;Therapeutic Advances in Respiratory Disease;2024-01
4. Rescue of Rare CFTR Trafficking Mutants Highlights a Structural Location-Dependent Pattern for Correction;International Journal of Molecular Sciences;2023-02-06
5. Analysis of the genotypic profile and its relationship with the clinical manifestations in people with cystic fibrosis: study from a rare disease registry;Orphanet Journal of Rare Diseases;2022-06-13
1.学者识别学者识别
2.学术分析学术分析
3.人才评估人才评估
"同舟云学术"是以全球学者为主线，采集、加工和组织学术论文而形成的新型学术文献查询和分析系统，可以对全球学者进行文献检索和人才价值评估。用户可以通过关注某些学科领域的顶尖人物而持续追踪该领域的学科进展和研究前沿。经过近期的数据扩容，当前同舟云学术共收录了国内外主流学术期刊6万余种，收集的期刊论文及会议论文总量共计约1.5亿篇，并以每天添加12000余篇中外论文的速度递增。我们也可以为用户提供个性化、定制化的学者数据。欢迎来电咨询！咨询电话：010-8811{复制后删除}0370
www.globalauthorid.com
TOP
Copyright © 2019-2024 北京同舟云网络信息技术有限公司 京公网安备11010802033243号 京ICP备18003416号-3