Low-Cost High-Throughput Genotyping for Diagnosing Familial Hypercholesterolemia.

Shirin Ibrahim,Jeroen van Rooij,Annemieke J M H Verkerk,Jard de Vries,Linda Zuurbier,Joep Defesche,Jorge Peter,Willemijn A M Schonck,Bahar Sedaghati-Khayat,G Kees Hovingh,André G Uitterlinden,Erik S G Stroes,Laurens F Reeskamp

Circulation. Genomic and precision medicine（2023）

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摘要

The FH genotyping array is a promising tool for genetically diagnosing FH at low costs and has the potential to greatly increase accessibility to genetic testing for FH. Continuous customization of the array will further improve its performance.

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关键词

apolipoprotein B, genotyping, hypercholesterolemia, familial, LDL receptor, microarray analysis

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