Differential phenotypic expression by three mutant alleles in familial lecithin:cholesterol acyltransferase deficiency.

doi:10.1016/0140-6736(91)90665-c

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Article

Differential phenotypic expression by three mutant alleles in familial lecithin:cholesterol acyltransferase deficiency.

Lancet (London, England) - 28 Sept 1991

Gotoda T, Yamada N, Murase T, Sakuma M, Murayama N, Shimano H, Kozaki K, Albers J J, Yazaki Y, Akanuma Y

Abstract excerpt

Familial deficiency of lecithin:cholesterol acyltransferase (LCAT) is an autosomal recessive disorder characterised by abnormalities of all plasma lipoprotein classes and by abnormal deposition of unesterified cholesterol in tissues. To elucidate the molecular basis of the disease, the LCAT genes...

Topics

Adult
Alleles
Amino Acid Sequence
Cholesterol
Chromosome Mapping
DNA
Exons
Female
Homozygote
Humans
Lecithin Cholesterol Acyltransferase Deficiency
Lipoproteins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Male

Middle Aged

Molecular Sequence Data

Mutation

Phenotype

Polymerase Chain Reaction

Source

Open in PubMed

Identifiers

PMID: 1681161
DOI: 10.1016/0140-6736(91)90665-c

Genes

LCAT

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-1681161-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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