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...

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Main Authors: Souf, Muhidien, Bedenbender, Simon, Ruppert, Volker, Kurt, Bilgen, Schieffer, Bernhard, Schaefer, Juergen R.
Format: Article
Language:English
Published: Philipps-Universität Marburg 2022
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Call Number: urn:nbn:de:hebis:04-es2022-01413
Publication Date: 2022-08-31
Source: 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: 7 (2024), 38 (2023), 8 (2022)
License: https://creativecommons.org/licenses/by/4.0
Access URL: https://archiv.ub.uni-marburg.de/es/2022/0141
https://doi.org/10.3389/fgene.2022.836231