Genetic basis of the silent phenotype of serum butyrylcholinesterase in three compound heterozygotes.

doi:10.1016/0009-8981(95)06014-1

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Article

Genetic basis of the silent phenotype of serum butyrylcholinesterase in three compound heterozygotes.

Clinica chimica acta; international journal of clinical chemistry - 28 Feb 1995

Maekawa M, Sudo K, Kanno T, Kotani K, Dey D C, Ishikawa J, Izumi M, Etoh K

Abstract excerpt

Three Japanese patients showed very low butyrylcholinesterase activity in their sera and appeared to be homozygous for silent genes for butyrylcholinesterase. From DNA analysis, all three patients were compound heterozygotes: GGA(Gly) to CGA(Arg) at codon 365 (G365R) and TTC(Phe) to TCC(Ser) at codon 418 (F418S) in patient 1, G365R and CGT(Arg) to TGT(Cys) at codon 515 (R515C) in patient 2 and ACT(Thr) to...

Topics

Alleles
Amino Acid Sequence
Base Sequence
Butyrylcholinesterase
Codon, Nonsense
Genetic Heterogeneity
Genotype
Heterozygote
Humans
Japan
Molecular Sequence Data

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Pedigree

Phenotype

Point Mutation

Polymerase Chain Reaction

Polymorphism, Restriction Fragment Length

Polymorphism, Single-Stranded Conformational

Sequence Analysis

Source

Open in PubMed

Identifiers

PMID: 7634491
DOI: 10.1016/0009-8981(95)06014-1

Genes

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-7634491-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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