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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Natura: | Articolo |
Lingua: | inglese |
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Philipps-Universität Marburg
2022
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Accesso online: | PDF Full Text |
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PDF Full TextCollocazione: |
urn:nbn:de:hebis:04-es2022-01413 |
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Data di pubblicazione: |
2022-08-31 |
Fonte: |
Erstveröffentlichung: Soufi M, Bedenbender S, Ruppert V, Kurt B, Schieffer B and Schaefer JR (2022) Fast and Easy Nanopore Sequencing Workflow for Rapid Genetic Testing of Familial Hypercholesterolemia. Front. Genet. 13:836231. https://doi.org/10.3389/fgene.2022.836231 |
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24 (2024), 38 (2023), 8 (2022) |
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https://creativecommons.org/licenses/by/4.0 |
URL di accesso: |
https://archiv.ub.uni-marburg.de/es/2022/0141 https://doi.org/10.3389/fgene.2022.836231 |