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...

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Autors principals: Souf, Muhidien, Bedenbender, Simon, Ruppert, Volker, Kurt, Bilgen, Schieffer, Bernhard, Schaefer, Juergen R.
Format: Article
Idioma:anglès
Publicat: Philipps-Universität Marburg 2022
Matèries:
familial hypercholesterolemia
rapid genetic testing
Medizin
oxford nanopore sequencing
heredita
long amplicon sequencing
LDL receptor
genetic diagnosis
Medical sciences Medicine
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