Frequency of 8 CFTR gene mutations in cystic fibrosis patients in Minas Gerais, Brazil, diagnosed by neonatal screening-Reference-Cited by-同舟云学术

登录注册会员服务联系我们

Frequency of 8 CFTR gene mutations in cystic fibrosis patients in Minas Gerais, Brazil, diagnosed by neonatal screening

Published:2010-02 Issue:2 Volume:43 Page:134-138
ISSN:0100-879X
Container-title:Brazilian Journal of Medical and Biological Research
language:
Short-container-title:Braz J Med Biol Res

Author:

Perone C.¹,Medeiros G.S.¹,del Castillo D.M.¹,de Aguiar M.J.B.²,Januário J.N.¹

Affiliation:

1. Universidade Federal de Minas Gerais

2. Universidade Federal de Minas Gerais; Universidade Federal de Minas Gerais, Brasil

Publisher

FapUNIFESP (SciELO)

Subject

Cell Biology,General Pharmacology, Toxicology and Pharmaceutics,General Medicine,Immunology,Physiology,Biochemistry,General Neuroscience,Biophysics

Link

http://www.scielo.br/pdf/bjmbr/v43n2/7565.pdf

Reference24 articles.

1. Identification of the cystic fibrosis gene: genetic analysis;Kerem B;Science,1989

2. Identification of the cystic fibrosis gene: chromosome walking and jumping;Rommens JM;Science,1989

3. Cystic Fibrosis Mutation Database

4. Worldwide survey of the delta F508 mutation - report from the cystic fibrosis genetic analysis consortium;Am J Hum Genet,1990

5. Cystic fibrosis: a worldwide analysis of CFTR mutations - correlation with incidence data and application to screening;Bobadilla JL;Hum Mutat,2002

Cited by 12 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. Extensive CFTR sequencing through NGS in Brazilian individuals with cystic fibrosis: unravelling regional discrepancies in the country;Journal of Cystic Fibrosis;2021-05

2. Host-Pathogen Interaction in the Lung of Patients Infected withPseudomonas aeruginosa;Pseudomonas Aeruginosa - An Armory Within;2019-10-02

3. Identification of a novel large deletion and other copy number variations in the CFTR gene in patients with Cystic Fibrosis from a multiethnic population;Molecular Genetics & Genomic Medicine;2019-06-14

4. A Low-Cost and Simple Genetic Screening for Cystic Fibrosis Provided by the Brazilian Public Health System;The Journal of Pediatrics;2018-08

5. A new insight into CFTR allele frequency in Brazil through next generation sequencing;Pediatric Pulmonology;2017-08-03

同舟云学术

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