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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Detalhes bibliográficos

Autoren:	Souf, Muhidien, Bedenbender, Simon, Ruppert, Volker, Kurt, Bilgen, Schieffer, Bernhard, Schaefer, Juergen R.
Formato:	Artigo
Idioma:	inglês
Publicado em:	Philipps-Universität Marburg 2022
Assuntos:	long amplicon sequencing genetic diagnosis heredita Medizin LDL receptor familial hypercholesterolemia oxford nanopore sequencing rapid genetic testing Medical sciences Medicine
Acesso em linha:	Texto integral em PDF
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