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Article

Deficiency of lecithin:cholesterol acyltransferase due to compound heterozygosity of two novel mutations (Gly33Arg and 30 bp ins) in the LCAT gene.

Human molecular genetics - 1 Jan 1995

Wiebusch H, Cullen P, Owen J S, Collins D, Sharp P S, Funke H, Assmann G

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Share to Adolescent
Share to Amino Acid Sequence
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Share to Glycine

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

Share to Heterozygote

Share to Mutagenesis, Insertional

Share to Oligodeoxyribonucleotides

Share to Phosphatidylcholine-Sterol O-Acyltransferase

Source

Identifiers

PMID: 7711728
DOI: 10.1093/hmg/4.1.143

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.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

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Click a neighbor to travelStep 1 · 12 closest

Deficiency of lecithin:cholesterol acyltransferase due to compound heterozygosity of two novel mutations (Gly33Arg and 30 bp ins) in the LCAT gene.PMID 7711728Read ↗

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

Transmission of two novel mutations in a pedigree with familial lecithin:cholesterol acyltransferase deficiency: structure-function relationships and studies in a compound heterozygous proband.Semantic proximity Read ↗

Genetic lecithin:cholesterol acyltransferase deficiency and cardiovascular disease.Semantic proximity Read ↗

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

High prevalence of mutations in LCAT in patients with low HDL cholesterol levels in The Netherlands: identification and characterization of eight novel mutations.Semantic proximity Read ↗

Molecular analysis of a novel LCAT mutation (Gly179 → Arg) found in a patient with complete LCAT deficiency.Semantic proximity Read ↗

Lecithin:cholesterol acyltransferase deficiency: identification of a causative gene mutation and a co-inherited protein polymorphism.Semantic proximity Read ↗

Compound heterozygosity (G71R/R140H) in the lecithin:cholesterol acyltransferase (LCAT) gene results in an intermediate phenotype between LCAT-deficiency and fish-eye disease.Semantic proximity Read ↗

Genetic and phenotypic heterogeneity in familial lecithin: cholesterol acyltransferase (LCAT) deficiency. Six newly identified defective alleles further contribute to the structural heterogeneity in this disease.Semantic proximity Read ↗

Lecithin:cholesterol acyl transferase G30S: association with atherosclerosis, hypoalphalipoproteinemia and reduced in vivo enzyme activity.Semantic proximity Read ↗

Classical LCAT deficiency resulting from a novel homozygous dinucleotide deletion in exon 4 of the human lecithin: cholesterol acyltransferase gene causing a frameshift and stop codon at residue 144.Semantic proximity Read ↗

Two different allelic mutations in the lecithin:cholesterol acyltransferase (LCAT) gene resulting in classic LCAT deficiency: LCAT (tyr83-->stop) and LCAT (tyr156-->asn).Semantic proximity Read ↗

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