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Article

A novel LCAT mutation (Phe382-->Val) in a kindred with familial LCAT deficiency and defective apolipoprotein B-100.

Atherosclerosis - 1 Sept 2003

Nanjee M Nazeem, Stocks Joseph, Cooke C Justin, Molhuizen Henri O F, Marcovina Santica, Crook David, Kastelein John P, Miller Norman E

Abstract excerpt

We studied a four-generation family (17 subjects) with familial lecithin:cholesterol acyltransferase (LCAT) deficiency. A 30-year-old Caucasian male with corneal clouding and HDL cholesterol <0.1 mmol/l was a compound heterozygote for a novel mutation (Phe(382)-->Val), a previously reported mutat...

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Source

Identifiers

PMID: 12957688
DOI: 10.1016/s0021-9150(03)00241-7

Genes

LCAT

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-12957688-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

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

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