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Article

Autosomal recessive hypercholesterolaemia: long-term follow up and response to treatment.

Atherosclerosis - 1 May 2004

Naoumova Rossitza P, Neuwirth Clare, Lee Philip, Miller J Paul, Taylor Kenneth G, Soutar Anne K

Abstract excerpt

Autosomal recessive hypercholesterolaemia (ARH) is caused by mutations in ARH on chromosome 1p35-36, encoding a putative adaptor protein. Mutations in the gene prevent normal internalisation of the low density lipoprotein (LDL) receptor by cultured lymphocytes and monocyte-derived macrophages, but not skin fibroblasts. This newly identified disorder is characterised by severe hypercholesterolaemia, large tendon,...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 15135266
DOI: 10.1016/j.atherosclerosis.2004.01.020

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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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