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

Internet

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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