| Autor: |
Adolfsson, Emma, Fredriksson, Nils Johan, Jonasson, Jon, Nordenskjöld, Anna, Green, Anna |
| Zdroj: |
Atherosclerosis Plus; March 2025, Vol. 59 Issue: 1 p1-9, 9p |
| Abstrakt: |
Familial hypercholesterolemia (FH) and other disorders with similar features are common genetic disorders that remain underdiagnosed and undertreated, due in part to the cost of screening. The aim of this study was to design and implement a whole gene targeted NGS panel for the molecular diagnosis of FH and statin intolerance with an emphasis on high quality variant calling, including copy number analysis. |
| Databáze: |
Supplemental Index |
| Externí odkaz: |
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