A case report of an Egyptian family with familial hypercholesterolemia and an exonic LINE‐1 insertion in LDLR

A case report of an Egyptian family with familial hypercholesterolemia and an exonic LINE‐1 insertion in LDLR

Abstract Background Familial hypercholesterolemia (MIM: PS143890) is a genetic disorder characterized by an increase in blood cholesterol. LDLR is one of the genes which their defect contributes to the disorder. Affected individuals may carry a heterozygous variant or homozygous/compound heterozygou...

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Bibliographic Details
Main Authors: Yongjun Song, Reham Abdel Haleem Abo Elwafa, Omneya Magdy Omar, Go Hun Seo, Hane Lee
Format: Article
Language:English
Published: Wiley 2024-03-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
exome sequencing
familial hypercholesterolemia
LDLR
mobile element insertions
rare mendelian disorders
Online Access:https://doi.org/10.1002/mgg3.2410

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