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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| Príomhchruthaitheoirí: | , , , , , |
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| Formáid: | Alt |
| Teanga: | Béarla |
| Foilsithe / Cruthaithe: |
Philipps-Universität Marburg
2022
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| Rochtain ar líne: | An téacs iomlán mar PDF |
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