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...
Gardado en:
Autoren: | , , , , , |
---|---|
Formato: | Artigo |
Idioma: | inglés |
Publicado: |
Philipps-Universität Marburg
2022
|
Schlagworte: | |
Acceso en liña: | Texto completo PDF |
Tags: |
Engadir etiqueta
Sen Etiquetas, Sexa o primeiro en etiquetar este rexistro!
|
Sexa o primeiro en deixar un comentario!