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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Asıl Yazarlar: | , , , , , |
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Materyal Türü: | Makale |
Dil: | İngilizce |
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Philipps-Universität Marburg
2022
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Online Erişim: | PDF Tam Metin |
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Publikationen im Open Access gefördert durch die UB