Deep intronic variant causes aberrant splicing of ATP7A in a family with a variable occipital horn syndrome phenotype

IF 1.6 4区 医学 Q3 GENETICS & HEREDITY European journal of medical genetics Pub Date : 2023-12-01 DOI:10.1016/j.ejmg.2023.104907
J. Harkness, Huw B. Thomas, J. Urquhart, Peter Jamieson, Raymond T. O'Keefe, Helen M. Kingston, Charulata Deshpande, William G. Newman
{"title":"Deep intronic variant causes aberrant splicing of ATP7A in a family with a variable occipital horn syndrome phenotype","authors":"J. Harkness, Huw B. Thomas, J. Urquhart, Peter Jamieson, Raymond T. O'Keefe, Helen M. Kingston, Charulata Deshpande, William G. Newman","doi":"10.1016/j.ejmg.2023.104907","DOIUrl":null,"url":null,"abstract":"","PeriodicalId":11916,"journal":{"name":"European journal of medical genetics","volume":"277 ","pages":""},"PeriodicalIF":1.6000,"publicationDate":"2023-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"European journal of medical genetics","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1016/j.ejmg.2023.104907","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q3","JCRName":"GENETICS & HEREDITY","Score":null,"Total":0}
引用次数: 0
查看原文
分享 分享
微信好友 朋友圈 QQ好友 复制链接
本刊更多论文
在一个具有可变枕角综合征表型的家族中,深内含子变异导致 ATP7A 剪接异常
本文章由计算机程序翻译,如有差异,请以英文原文为准。
求助全文
约1分钟内获得全文 去求助
来源期刊
CiteScore
4.10
自引率
0.00%
发文量
193
审稿时长
66 days
期刊介绍: The European Journal of Medical Genetics (EJMG) is a peer-reviewed journal that publishes articles in English on various aspects of human and medical genetics and of the genetics of experimental models. Original clinical and experimental research articles, short clinical reports, review articles and letters to the editor are welcome on topics such as : • Dysmorphology and syndrome delineation • Molecular genetics and molecular cytogenetics of inherited disorders • Clinical applications of genomics and nextgen sequencing technologies • Syndromal cancer genetics • Behavioral genetics • Community genetics • Fetal pathology and prenatal diagnosis • Genetic counseling.
期刊最新文献
De novo variants in UPF1 associated with intellectual disabilities: Human genetic and functional evidences using Drosophila model Hypohidrotic ectodermal dysplasia caused by an intragenic duplication in EDAR Automated variant re-evaluation is labor-balanced and gives clinically relevant results: Hereditary cardiac disease as a use case Focal segmental glomerulosclerosis associated with undescribed mutation in the LMX1B gene ASXL1-related Bohring-Optiz syndrome complicated by persistent neonatal pulmonary hypertension and abnormal alveoli formation
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
×
提示
您的信息不完整,为了账户安全,请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
现在去查看 取消
×
提示
确定
0
微信
客服QQ
Book学术公众号 扫码关注我们
反馈
×
意见反馈
请填写您的意见或建议
请填写您的手机或邮箱
已复制链接
已复制链接
快去分享给好友吧!
我知道了
×
扫码分享
扫码分享
Book学术官方微信
Book学术文献互助
Book学术文献互助群
群 号:481959085
Book学术
文献互助 智能选刊 最新文献 互助须知 联系我们:info@booksci.cn
Book学术提供免费学术资源搜索服务,方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。
Copyright © 2023 Book学术 All rights reserved.
ghs 京公网安备 11010802042870号 京ICP备2023020795号-1