Fast and Easy Nanopore Sequencing Workflow for Rapid Genetic Testing of Familial Hypercholesterolemia

Fast and Easy Nanopore Sequencing Workflow for Rapid Genetic Testing of Familial Hypercholesterolemia

Familial hypercholesterolemia (FH) is an autosomal dominant lipid metabolism disorder characterized by severely elevated plasma low-density lipoprotein cholesterol levels. The disease is caused by mutations in 3 genes (LDLR, APOB and PCSK9) while over 90% of the mutations are located within the L...

全面介绍

Gespeichert in:
书目详细资料
Autoren: Souf, Muhidien, Bedenbender, Simon, Ruppert, Volker, Kurt, Bilgen, Schieffer, Bernhard, Schaefer, Juergen R.
格式: 文件
语言:英语
出版: Philipps-Universität Marburg 2022
主题:
familial hypercholesterolemia
rapid genetic testing
Medizin
oxford nanopore sequencing
heredita
long amplicon sequencing
LDL receptor
genetic diagnosis
Medical sciences Medicine
在线阅读:PDF-Volltext
标签: 添加标签
没有标签, 成为第一个标记此记录!

因特网

PDF-Volltext

持有资料详情
索引号: urn:nbn:de:hebis:04-es2022-01413
Publikationsdatum: 2022-08-31
Quelle: Erstveröffentlichung: Soufi M, Bedenbender S, Ruppert V, Kurt B, Schieffer B and Schaefer JR (2022) Fast and Easy Nanopore Sequencing Workflow for Rapid Genetic Testing of Familial Hypercholesterolemia. Front. Genet. 13:836231. https://doi.org/10.3389/fgene.2022.836231
Downloads: 25 (2024), 38 (2023), 8 (2022)
Lizenz: https://creativecommons.org/licenses/by/4.0
访问URL: https://archiv.ub.uni-marburg.de/es/2022/0141
https://doi.org/10.3389/fgene.2022.836231

相似书籍