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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Principais autores:	Yongjun Song, Reham Abdel Haleem Abo Elwafa, Omneya Magdy Omar, Go Hun Seo, Hane Lee
Formato:	Artigo
Idioma:	Inglês
Publicado em:	Wiley 2024-03-01
Colecção:	Molecular Genetics & Genomic Medicine
Assuntos:	exome sequencing familial hypercholesterolemia LDLR mobile element insertions rare mendelian disorders
Acesso em linha:	https://doi.org/10.1002/mgg3.2410
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