Mutation in an exonic splicing enhancer site causing chronic granulomatous disease
Author:
Publisher
Elsevier BV
Subject
Cell Biology,Hematology,Molecular Biology,Molecular Medicine
Reference34 articles.
1. Splice site mutations are a common cause of X-linked chronic granulomatous disease;De Boer;Blood,1992
2. Listening to silence and understanding nonsense: exonic mutations that affect splicing;Cartegni;Nat. Rev. Genet.,2002
3. Splicing defects caused by exonic mutations in PKD1 as a new mechanism of pathogenesis in autosomal dominant polycystic kidney disease;Claverie-Martin;RNA Biol.,2015
4. BRCA2 T2722R is a deleterious allele that causes exon skipping;Fackenthal;Am. J. Hum. Genet.,2002
5. The deleterious effect of missense mutations on pre-mRNA splicing;Goncalves,2011
Cited by 13 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. Genetic screening in a Brazilian cohort with inborn errors of immunity;BMC Genomic Data;2023-08-17
2. Variant Type X91+ Chronic Granulomatous Disease: Clinical and Molecular Characterization in a Chinese Cohort;Journal of Clinical Immunology;2022-07-07
3. Hematologically important mutations: X-linked chronic granulomatous disease (fourth update);Blood Cells, Molecules, and Diseases;2021-09
4. Mutations in cis that affect mRNA synthesis, processing and translation;Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease;2021-09
5. The RNA binding protein SRSF1 is a master switch of gene expression and regulation in the immune system;Cytokine & Growth Factor Reviews;2021-02
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