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Article

Characterisation of LDL receptor gene mutations in a North Indian cohort of children with homozygous familial hypercholesterolaemia.

Pediatric endocrinology, diabetes, and metabolism - 1 Jan 2021

Singh Shagun, Singh Minu, Dayal Devi, Bhatia Prateek, Negi Sandeep, V Attri Savita

Abstract excerpt

INTRODUCTION: Homozygous familial hypercholesterolaemia (HoFH) carries a grave prognosis but is often underdiagnosed and undertreated. Confirmation of molecular diagnosis helps in planning effective management and determining prognosis accurately. Aim of the study: To determine the spectrum of mutations in the LDLR gene in a cohort of children with a clinical diagnosis of HoFH. MATERIAL AND METHODS: Genomic DNA...

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

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Identifiers

PMID: 33599434
DOI: 10.5114/pedm.2020.103056
PMCID: PMC10227482

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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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