A 2.1 Mb deletion adjacent but distal to a 14q21q23 paracentric inversion in a family with spherocytosis and severe learning difficulties
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1399-0004.2008.01072.x/fullpdf
Reference19 articles.
1. Assignment of the gene for beta-spectrin (SPTB) to chromosome 14q23-q24.2 by in situ hybridization;Fukushima;Cytogenet Cell Genet,1990
2. Hematologically important mutations: spectrin and ankyrin variants in hereditary spherocytosis;Gallagher;Blood Cells Mol Dis,1998
3. Rho-linked genes and neurological disorders;Nadif Kasri;Pflugers Arch,2008
4. Rho GTPases, dendritic structure, and mental retardation;Newey;J Neurobiol,2005
Cited by 21 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. Intragenic deletions in SPTB are associated with hereditary spherocytosis: Series of 12 cases;British Journal of Haematology;2024-08-07
2. Could the 14q23.2 microdeletion or AKAP5 haploinsufficiency be a potential cause of intellectual disability?;Psychiatric Genetics;2024-04-20
3. A novel loss-of-function mutation of the voltage-gated potassium channel Kv10.2 involved in epilepsy and autism;Orphanet Journal of Rare Diseases;2022-09-06
4. Function of SYDE C2-RhoGAP family as signaling hubs for neuronal development deduced by computational analysis;Scientific Reports;2022-03-12
5. A genotype-first analysis in a cohort of Mullerian anomaly;Journal of Human Genetics;2022-01-13
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