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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Bibliografiske detaljer
Autoren: Souf, Muhidien, Bedenbender, Simon, Ruppert, Volker, Kurt, Bilgen, Schieffer, Bernhard, Schaefer, Juergen R.
Format: Artikel
Sprog:engelsk
Udgivet: Philipps-Universität Marburg 2022
Fag:
familial hypercholesterolemia
rapid genetic testing
Medizin
oxford nanopore sequencing
heredita
long amplicon sequencing
LDL receptor
genetic diagnosis
Medical sciences Medicine
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