A Case Report of an Egyptian Family with Hypercholesterolemia Diagnosed with a Unique LINE-1 Insertion in the LDLR Gene
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Presenting Author - Yongjun Song, MS; Co-Author - Reham A. Elwafa, MD; Co-Author - Omneya M. Omar, MD; Co-Author - Hane Lee, Ph.D; Co-Author - GoHun Seo, MD, PhD;
Meta Tag
Cardiovascular System
Exome sequencing
Sequencing
Variant Detection
Co-Author Reham A. Elwafa, MD
Co-Author Omneya M. Omar, MD
Co-Author Hane Lee, Ph.D
Co-Author GoHun Seo, MD, PhD
Presenting Author Yongjun Song, MS
Keywords
hypercholesterolemia
TC/HDL ratio
LDL/HDL ratio
genome analysis
single nucleotide variations
small insertions/deletions
LDLR gene
LINE-1 insertion
depth of coverage
bioinformatics analysis

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