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Article

A silent mutation of Niemann-Pick C1-like 1 and apolipoprotein E4 modulate cholesterol absorption in primary hyperlipidemias.

Journal of clinical lipidology - 1 Jan 2000

Lupattelli Graziana, Pisciotta Livia, De Vuono Stefano, Siepi Donatella, Bellocchio Antonella, Melis Francesco, Bertolini Stefano, Pirro Matteo, Mannarino Elmo

Abstract excerpt

OBJECTIVE: To investigate the influence of the silent mutation c.816C > G (L272) of Niemann-Pick C1-like 1 (NPC1L1) and of apolipoprotein (APO) E alleles on cholesterol absorption markers, sitosterol and campesterol, in 87 patients with primary hyperlipidemias. METHODS: In all subjects genotyped for silent polymorphism in NPC1L1 gene c.816C > G (L272L) and for APO E polymorphism, campesterol and sitosterol were...

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Identifiers

PMID: 23415434
DOI: 10.1016/j.jacl.2012.12.003

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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