论文期刊

取消

高级检索

检索历史清除

首页> Genes> Detection of Cryptic Fragile X Full Mutation Alleles by Southern Blot in a Female and Her Foetal DNA via Chorionic Villus Sampling, Complicated by Mosaicism for 45,X0/46,XX/47,XXX.

Detection of Cryptic Fragile X Full Mutation Alleles by Southern Blot in a Female and Her Foetal DNA via Chorionic Villus Sampling, Complicated by Mosaicism for 45,X0/46,XX/47,XXX.

导出 OA

翻译打印收藏纠错

作者： Alison,Pandelache ^[1] ; David,Francis ^[1] ; Ralph,Oertel ^[1] ; Rebecca,Dickson ^[2] ; Rani,Sachdev ^[3] ; Ling,Ling ^[4] ; Dinusha,Gamage ^[4] ; David E,Godler ^[4]

作者单位： Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, VIC 3052, Australia. ^[1] Maternal Fetal Medicine Department, Royal Hospital for Women, Randwick, NSW 2031, Australia. ^[2] Centre for Clinical Genetics, Sydney Children's Hospital, Randwick, NSW 2031, Australia. ^[3] Diagnosis and Development, Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, VIC 3052, Australia. ^[4] Faculty of Medicine, Dentistry and Health Sciences, Department of Paediatrics, University of Melbourne, Parkville, VIC 3052, Australia. ^[5]

关键词 45,X0/46,XX/47,XXX CGG FMR1 X syndrome cultured chorionic villus fragile full mutation mosaicism sample southern blot

主题词成年人(Adult);等位基因(Alleles);绒毛膜绒毛取样(Chorionic Villi Sampling);染色体, 人, X(Chromosomes, Human, X);女(雌)性(Female);脆性X智力低下蛋白质(Fragile X Mental Retardation Protein);脆性X综合征(Fragile X Syndrome);基因检测(Genetic Testing);人类(Humans);镶嵌现象(Mosaicism);妊娠(Pregnancy);三核苷酸重复扩增(Trinucleotide Repeat Expansion)

DOI 10.3390/genes12060798

PMID 34073864

发布时间 2021-12-14

翻译满意度评价：

准确一般字义偏差语意偏离译文作用小提交

浏览6

Genes

Genes

2021年12卷6期

相似文献

中文期刊
外文期刊
学位论文
会议论文

特别提示：本网站仅提供医学学术资源服务，不销售任何药品和器械，有关药品和器械的销售信息，请查阅其他网站。

客服热线：4000-115-888 转3 (周一至周五：8:00至17:00)
|
客服邮箱：yiyao@wanfangdata.com.cn

违法和不良信息举报电话：4000-115-888，举报邮箱：problem@wanfangdata.com.cn，举报专区

官方微信

万方医学小程序

关于我们网站地图知识产权

北京万方数据股份有限公司

万方数据电子出版社

京ICP证010071号

京公网安备11010802020237号

京ICP备08100800号-1

违法和不良信息举报电话：4000-115-888，举报邮箱：problem@wanfangdata.com.cn，举报专区

new翻译充值订阅收藏移动端

官方微信

万方医学小程序

调查问卷