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Article

Targeted exome sequencing in South Indian patients with Familial hypercholesterolemia.

Clinica chimica acta; international journal of clinical chemistry - 15 Feb 2022

Pillai Krishna Kumar B, Shah Swarup A V, Reddy Lakshmi Lavanya, Ashavaid Tester F, Vishwanathan Sunitha

Abstract excerpt

BACKGROUND: Familial hypercholesterolemia (FH) is an autosomal dominant genetic disorder with elevated LDL-C levels which can ultimately lead to premature Coronary Artery Disease (CAD). OBJECTIVES: In presence of limited genetic data on FH in India, the present study was aimed to determine the mutation spectrum in Indian FH patients using a targeted exome sequencing. METHODS: 54 FH cases (31 index cases + 23...

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Share to Cholesterol and Lipid Metabolism
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Proprotein Convertase 9

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Source

Identifiers

PMID: 34998859
DOI: 10.1016/j.cca.2021.12.022

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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