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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Bibliographic Details

Main Authors:	Souf, Muhidien, Bedenbender, Simon, Ruppert, Volker, Kurt, Bilgen, Schieffer, Bernhard, Schaefer, Juergen R.
Format:	Article
Language:	English
Published:	Philipps-Universität Marburg 2022
Subjects:	oxford nanopore sequencing genetic diagnosis Medizin familial hypercholesterolemia rapid genetic testing heredita long amplicon sequencing LDL receptor Medical sciences Medicine
Online Access:	PDF Full Text
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