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Article

Mutation in the ARH gene and a chromosome 13q locus influence cholesterol levels in a new form of digenic-recessive familial hypercholesterolemia.

Circulation research - 17 May 2002

Al-Kateb Hussam, Bähring Sylvia, Hoffmann Katrin, Strauch Konstantin, Busjahn Andreas, Nürnberg Gudrun, Jouma Muhidien, Bautz Eckehard K F, Dresel Hans A, Luft Friedrich C

Abstract excerpt

We studied a Syrian family with 3 children who had low-density lipoprotein cholesterol (LDL) concentrations of 13.3, 12.2, and 8.6 mmol/L, respectively. Three other siblings and the parents all had LDL values <4.52 mmol/L, suggesting an autosomal-recessive mode of inheritance. The extended pedigree had 66 additional persons with normal LDL values. A genome-wide scan in the core family with 427 markers showed...

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Identifiers

PMID: 12016260
DOI: 10.1161/01.res.0000018002.43041.08

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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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