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Article

Intronic mutations outside of Alu-repeat-rich domains of the LDL receptor gene are a cause of familial hypercholesterolemia.

Human genetics - 1 Dec 2002

Amsellem Sabine, Briffaut Dorothée, Carrié Alain, Rabès Jean Pierre, Girardet Jean Philippe, Fredenrich Alexandre, Moulin Philippe, Krempf Michel, Reznik Yves, Vialettes Bernard, de Gennes Jean Luc, Brukert Eric, Benlian Pascale

Abstract excerpt

Familial hypercholesterolemia (FH), a frequent monogenic condition complicated by premature cardiovascular disease, is characterized by high allelic heterogeneity at the low-density lipoprotein receptor ( LDLR) locus. Despite more than a decade of genetic testing, knowledge about intronic disease-causing mutations has remained limited because of lack of available genomic sequences. Based on the finding from...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 12436241
DOI: 10.1007/s00439-002-0813-4

Genes

LDLR

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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Intronic mutations outside of Alu-repeat-rich domains of the LDL receptor gene are a cause of familial hypercholesterolemia.PMID 12436241Read ↗

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