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Futema M | OMICS International
ISSN: 1747-0862

Journal of Molecular and Genetic Medicine
Open Access

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Futema M

UK
Publications

A Case Report of a South Asian Family with Homozygous and Heterozygous Familial Defective APOB-100 Caused by p.(Arg3527Trp)

Familial hypercholesterolemia (FH) is an autosomal dominant disorder most commonly caused by mutations in the gene for the Low-Density Lipoprotein (LDL) receptor (LDLR), but about 5% of patients in the UK with a clinical diagnosis of FH have a mutation in the gene for apolipoprotein B (APOB). This disorder is called Familial Defective APOB-100 (FDB... Read More»

Inessa T, Fairoozy RH, Humphries SE, Futema M and Hughes EA

Case Report: J Mol Genet Med 2017, 11: 298

DOI: 10.4172/1747-0862.1000298

Abstract Peer-reviewed Full Article Peer-reviewed Article PDF Mobile Full Article

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