Mutation analysis of 419 family and prenatal diagnosis of 339 cases of spinal muscular atrophy in China
Author:
Funder
National Key Research and Development Program of China
Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Genetics
Link
http://link.springer.com/content/pdf/10.1186/s12881-020-01069-z.pdf
Reference15 articles.
1. Darras BT. Spinal muscular atrophies. Pediatr Clin N Am. 2015;62(3):743–66.
2. Munsat TL, Davies KE. International SMA consortium meeting. (26–28 June 1992, Bonn, Germany). Neuromuscul Disord. 1992;2(5–6):423–8.
3. Burlet P, et al. Large scale deletions of the 5q13 region are specific to Werdnig-Hoffmann disease. J Med Genet. 1996;33(4):281–3.
4. Simard LR, et al. Preclinical validation of a multiplex real-time assay to quantify SMN mRNA in patients with SMA. Neurology. 2007;68(6):451–6.
5. Zerres K, Rudnik-Schoneborn S. Natural history in proximal spinal muscular atrophy. Clinical analysis of 445 patients and suggestions for a modification of existing classifications. Arch Neurol. 1995;52(5):518–23.
Cited by 11 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. Screening of Spinal Muscular Atrophy Carriers and Prenatal Diagnosis in Pregnant Women in Yancheng, China;Biochemical Genetics;2024-04-06
2. Spinal muscular atrophy: Molecular mechanism of pathogenesis, diagnosis, therapeutics, and clinical trials in the Indian context;Journal of Biosciences;2024-02-20
3. Diagnostics for Genetically Inherited Disorders: From Cytogenetics to Genomics Technologies- A Review;Biomedical and Pharmacology Journal;2023-06-30
4. The Frequency of SMN1, SMN2 Copy Numbers in 246 Turkish Cases Analyzed with MLPA Method;Global Medical Genetics;2023-06
5. Genetic analysis of 55 cases with fetal skeletal dysplasia;Orphanet Journal of Rare Diseases;2022-11-09
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