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Article

Molecular mechanisms of autosomal recessive hypercholesterolemia.

Human molecular genetics - 15 Nov 2002

Wilund Kenneth R, Yi Ming, Campagna Filomena, Arca Marcello, Zuliani Giovanni, Fellin Renato, Ho Yiu-Kee, Garcia J Victor, Hobbs Helen H, Cohen Jonathan C

Abstract excerpt

Mutations in the phosphotyrosine-binding domain protein ARH cause autosomal recessive hypercholesterolemia (ARH), an inherited form of hypercholesterolemia due to a tissue-specific defect in the removal of low density lipoproteins (LDL) from the circulation. LDL uptake by the LDL receptor (LDLR) is markedly reduced in the liver but is normal or only moderately impaired in cultured fibroblasts of ARH patients. To...

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Source

Identifiers

PMID: 12417523
DOI: 10.1093/hmg/11.24.3019

Genes

LDLR

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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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