Screening BRCA1 and BRCA2 unclassified variants for splicing mutations using reverse transcription PCR on patient RNA and an ex vivo assay based on a splicing reporter minigene-Reference-Cited by-同舟云学术

登录注册会员服务联系我们

Screening BRCA1 and BRCA2 unclassified variants for splicing mutations using reverse transcription PCR on patient RNA and an ex vivo assay based on a splicing reporter minigene

Published:2008-05-07 Issue:7 Volume:45 Page:438-446
ISSN:1468-6244
Container-title:Journal of Medical Genetics
language:en
Short-container-title:Journal of Medical Genetics

Author:

Bonnet C,Krieger S,Vezain M,Rousselin A,Tournier I,Martins A,Berthet P,Chevrier A,Dugast C,Layet V,Rossi A,Lidereau R,Frebourg T,Hardouin A,Tosi M

Publisher

BMJ

Subject

Genetics (clinical),Genetics

Cited by 112 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. Featuring BRCA1 and BRCA2 germline mutational landscape from Asturias (North Spain);Clinical Genetics;2024-06-24

2. A novel PKHD1 splicing variant identified in a fetus with autosomal recessive polycystic kidney disease;Frontiers in Genetics;2023-06-29

3. Systematic analysis of CNGA3 splice variants identifies different mechanisms of aberrant splicing;Scientific Reports;2023-02-18

4. SEPT–GD: A decision tree to prioritise potential RNA splice variants in cardiomyopathy genes for functional splicing assays in diagnostics;Gene;2023-01

5. Curating the gnomAD database: Report of novel variants in the thyroid peroxidase gene using in silico bioinformatics algorithms and a literature review;Molecular and Cellular Endocrinology;2022-12

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