"Missing mutations" in MPS I: Identification of two novel copy number variations by an IDUA-specific in house MLPA assay.

导出 LinkOut

翻译打印收藏纠错

第一作者： Amir,Jahic

第一单位： Institute of Clinical Chemistry and Laboratory Diagnostics, Jena University Hospital, Jena, Germany.;Institute of Laboratory Medicine, Clinical Chemistry and Pathobiochemistry, Charité - Universitätsmedizin Berlin, Berlin, Germany.

作者： Amir,Jahic ^[1] ; Sven,Günther ^[2] ; Nicole,Muschol ^[3] ; Barbro,Fossøy Stadheim ^[4] ; Øivind,Braaten ^[4] ; Hanne,Kjensli Hyldebrandt ^[4] ; Gé-Ann,Kuiper ^[5] ; Karen,Tylee ^[6] ; Frits A,Wijburg ^[5] ; Christian,Beetz ^[7]

作者单位： Institute of Clinical Chemistry and Laboratory Diagnostics, Jena University Hospital, Jena, Germany.;Institute of Laboratory Medicine, Clinical Chemistry and Pathobiochemistry, Charité - Universitätsmedizin Berlin, Berlin, Germany. ^[1] Institute of Clinical Chemistry and Laboratory Diagnostics, Jena University Hospital, Jena, Germany. ^[2] Department of Pediatrics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany. ^[3] Department of Clinical Genetics, Oslo University Hospital, Oslo, Norway. ^[4] Pediatric Metabolic Diseases, Amsterdam UMC, University of Amsterdam, Academic Medical Center (AMC), Amsterdam, Netherlands. ^[5] Manchester Center for Genomic Medicine, St Mary's Hospital, Manchester, UK. ^[6] Institute of Clinical Chemistry and Laboratory Diagnostics, Jena University Hospital, Jena, Germany.;Centogene AG, Rostock, Germany. ^[7]

关键词 IDUA MLPA copy number variations deletion duplication

主题词 DNA拷贝数变异(DNA Copy Number Variations);女(雌)性(Female);人类(Humans);艾杜糖醛酸酶(Iduronidase);连接酶链反应(Ligase Chain Reaction);男(雄)性(Male);黏多糖累积病Ⅰ型(Mucopolysaccharidosis I);突变(Mutation)

DOI 10.1002/mgg3.615

PMID 31319022

发布时间 2021-01-10

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0

Molecular genetics & genomic medicine

2019年7卷9期

e00615页

相似文献

中文期刊
外文期刊
学位论文
会议论文

检索历史清除

"Missing mutations" in MPS I: Identification of two novel copy number variations by an IDUA-specific in house MLPA assay.

Molecular genetics & genomic medicine

相似文献

Molecular genetics & genomic medicine

相关期刊

参考文献：
指定格式：	NoteExpress EndNote RefWorks NoteFirst

检索历史 清除

"Missing mutations" in MPS I: Identification of two novel copy number variations by an IDUA-specific in house MLPA assay.

Molecular genetics & genomic medicine

相似文献

Molecular genetics & genomic medicine

相关期刊

检索历史清除