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Article

Genetics, clinical phenotype, and molecular cell biology of autosomal recessive hypercholesterolemia.

Arteriosclerosis, thrombosis, and vascular biology - 1 Nov 2003

Soutar Anne K, Naoumova Rossitza P, Traub Linton M

Abstract excerpt

The recent characterization of a rare genetic defect causing autosomal recessive hypercholesterolemia (ARH) has provided new insights into the underlying mechanism of clathrin-mediated internalization of the LDL receptor. Mutations in ARH on chromosome 1p35-36.1 prevent normal internalization of the LDL receptor by cultured lymphocytes and monocyte-derived macrophages but not by skin fibroblasts. In affected...

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Source

Identifiers

PMID: 12958046
DOI: 10.1161/01.ATV.0000094410.66558.9A

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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