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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 LDLR...

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Detalles Bibliográficos
Autores principales:	Soufi, Muhidien, Bedenbender, Simon, Ruppert, Volker, Kurt, Bilgen, Schieffer, Bernhard, Schaefer, Juergen R.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2022
Materias:	Genetics
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8864071/ https://www.ncbi.nlm.nih.gov/pubmed/35222550 http://dx.doi.org/10.3389/fgene.2022.836231

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