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Article

Establishing the Mutational Spectrum of Hungarian Patients with Familial Hypercholesterolemia.

Genes - 15 Jan 2022

Madar László, Juhász Lilla, Szűcs Zsuzsanna, Kerkovits Lóránt, Harangi Mariann, Balogh István

Abstract excerpt

Familial hypercholesterolemia (FH) is one of the most common autosomal, dominantly inherited diseases affecting cholesterol metabolism, which, in the absence of treatment, leads to the development of cardiovascular complications. The disease is still underdiagnosed, even though an early diagnosis would be of great importance for the patient to receive proper treatment and to prevent further complications. No...

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Identifiers

PMID: 35052492
DOI: 10.3390/genes13010153
PMCID: PMC8775528

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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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