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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Λεπτομέρειες βιβλιογραφικής εγγραφής

Κύριοι συγγραφείς:	Yongjun Song, Reham Abdel Haleem Abo Elwafa, Omneya Magdy Omar, Go Hun Seo, Hane Lee
Μορφή:	Artigo
Γλώσσα:	Inglês
Έκδοση:	Wiley 2024-03-01
Σειρά:	Molecular Genetics & Genomic Medicine
Θέματα:	exome sequencing familial hypercholesterolemia LDLR mobile element insertions rare mendelian disorders
Διαθέσιμο Online:	https://doi.org/10.1002/mgg3.2410
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