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...

Volledige beschrijving

Bibliografische gegevens

Hoofdauteurs:	Souf, Muhidien, Bedenbender, Simon, Ruppert, Volker, Kurt, Bilgen, Schieffer, Bernhard, Schaefer, Juergen R.
Formaat:	Artikel
Taal:	Engels
Gepubliceerd in:	Philipps-Universität Marburg 2022
Onderwerpen:	long amplicon sequencing genetic diagnosis heredita Medizin LDL receptor familial hypercholesterolemia oxford nanopore sequencing rapid genetic testing Medical sciences Medicine
Online toegang:	PDF Full text
Tags:	Voeg label toe Geen labels, Wees de eerste die dit record labelt!