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Article

Spectrum of mutations in homozygous familial hypercholesterolemia in India, with four novel mutations.

Atherosclerosis - 1 Dec 2016

Setia Nitika, Saxena Renu, Arora Anjali, Verma Ishwar C

Abstract excerpt

BACKGROUND AND AIMS: Homozygous familial hypercholesterolemia (FH) is a rare but serious, inherited disorder of lipid metabolism characterized by very high total and LDL cholesterol levels from birth. It presents as cutaneous and tendon xanthomas since childhood, with or without cardiac involvement. FH is commonly caused by mutations in three genes, i.e. LDL receptor (LDLR), apolipoprotein B (ApoB) and PCSK9. We...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Identifiers

PMID: 27816806
DOI: 10.1016/j.atherosclerosis.2016.10.028

Genes

LDLR
PCSK9

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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