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Article

The A370T variant (StuI polymorphism) in the LDL receptor gene is not associated with plasma lipid levels or cardiovascular risk in UK men.

Annals of human genetics - 1 Nov 2006

Vieira José Ricardo S, Whittall Ros A, Cooper Jackie A, Miller George J, Humphries Steve E

Abstract excerpt

Over 800 different missense mutations in the low density lipoprotein (LDL) receptor gene (LDLR) have been identified in patients with familial hypercholesterolaemia (FH). Only two of them, including the Alanine to Threonine change at position 370 (A370T), have been discovered in FH patients but d...

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Identifiers

PMID: 17044844
DOI: 10.1111/j.1469-1809.2006.00294.x

Genes

LDLR

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-17044844-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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