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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)...

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Share to Adaptor Proteins, Signal Transducing
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 12417523
DOI: 10.1093/hmg/11.24.3019

Genes

LDLR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-12417523-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

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