A case report of an Egyptian family with familial hypercholesterolemia and an exonic LINE‐1 insertio...
A case report of an Egyptian family with familial hypercholesterolemia and an exonic LINE‐1 insertion in LDLR
About this item
Full title
Author / Creator
Publisher
United States: John Wiley & Sons, Inc
Journal title
Language
English
Formats
Publication information
Publisher
United States: John Wiley & Sons, Inc
Subjects
More information
Scope and Contents
Contents
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 heterozygous variants and those with biallelic pathogenic variants...
Alternative Titles
Full title
A case report of an Egyptian family with familial hypercholesterolemia and an exonic LINE‐1 insertion in LDLR
Authors, Artists and Contributors
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_doaj_primary_oai_doaj_org_article_6a7477e0eda544abb134fe80cbc0d97a
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_6a7477e0eda544abb134fe80cbc0d97a
Other Identifiers
ISSN
2324-9269
E-ISSN
2324-9269
DOI
10.1002/mgg3.2410
