Novel mutation in the 5? splice site of exon 4 of theTCOF1 gene in the patient with Treacher Collins syndrome
Author:
Publisher
Wiley
Subject
Genetics (clinical)
Reference11 articles.
1. Identification of the complete coding sequence and genomic organization of the Treacher Collins syndrome gene.
2. Mutation testing in Treacher Collins Syndrome
3. Treacher Collins syndrome may result from insertions, deletions or splicing mutations, which introduce a termination codon into the gene
4. 2001. Syndromes of the head and neck. 4thedn, New York: Oxford University Press.
Cited by 17 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. Nucleolar stress: From development to cancer;Seminars in Cell & Developmental Biology;2023-02
2. Phenotype Analysis and Genetic Study of Chinese Patients With Treacher Collins Syndrome;The Cleft Palate-Craniofacial Journal;2021-08-16
3. Living with orofacial conditions: psychological distress and quality of life in adults affected with Treacher Collins syndrome, cherubism, or oligodontia/ectodermal dysplasia—a comparative study;Quality of Life Research;2014-10-25
4. Treacher Collins Syndrome: The genetics of a craniofacial disease;International Journal of Pediatric Otorhinolaryngology;2014-06
5. Evolutionary Conservation and Expression of Human RNA-Binding Proteins and Their Role in Human Genetic Disease;Systems Biology of RNA Binding Proteins;2014
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