A novel missense mutation (Asn5-->Ile) in lecithin: cholesterol acyltransferase (LCAT) gene in a Japanese patient with LCAT deficiency.

doi:10.1007/BF02602958

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Article

A novel missense mutation (Asn5-->Ile) in lecithin: cholesterol acyltransferase (LCAT) gene in a Japanese patient with LCAT deficiency.

International journal of clinical & laboratory research - 1 Jan 1996

Okubo M, Aoyama Y, Shio H, Albers J J, Murase T

Abstract excerpt

We identified a novel missense mutation in the lecithin:cholesterol acyltransferase gene in a new case of lecithin:cholesterol acyltransferase (LCAT) deficiency. The patient was a 64-year-old diabetic Japanese male who showed an extremely low level of serum high-density lipoprotein-cholesterol, c...

Topics

Amino Acid Sequence
Base Sequence
DNA
Homozygote
Humans
Lecithin Cholesterol Acyltransferase Deficiency
Male
Middle Aged
Mutation
Phosphatidylcholine-Sterol O-Acyltransferase
Restriction Mapping
Sequence Analysis, DNA

Source

Open in PubMed

Identifiers

PMID: 9007616
DOI: 10.1007/BF02602958

Genes

LCAT

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-9007616-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

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

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