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Article

Complete deficiency of plasma lecithin-cholesterol acyltransferase (LCAT) activity due to a novel homozygous mutation (Gly-30-Ser) in the LCAT gene.

Human mutation - 1 Jan 1996

Owen J S, Wiebusch H, Cullen P, Watts G F, Lima V L, Funke H, Assmann G

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 8807342
DOI: 10.1002/(SICI)1098-1004(1996)8:1<79::AID-HUMU13>3.0.CO;2-O

Genes

LCAT

Provenance

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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Complete deficiency of plasma lecithin-cholesterol acyltransferase (LCAT) activity due to a novel homozygous mutation (Gly-30-Ser) in the LCAT gene.PMID 8807342Read ↗

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LCAT deficiency: molecular and phenotypic characterization of an Italian family.Semantic proximity Read ↗

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