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Article

Genetic mutations of butyrylcholine esterase identified from phenotypic abnormalities in Japan.

Clinical chemistry - 1 Jun 1997

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

Abstract excerpt

We have identified 12 kinds of genetic mutations of butyrylcholine esterase (BCHE) from phenotypic abnormalities, showing that BCHE activities were deficient or diminished in sera. These genetic mutations, detected by PCR-single-strand conformation polymorphism analysis and direct sequencing, consisted of one deletion (BCHE*FS4), nine missense (BCHE*24 M, *1005, *250P, *267R, *330I, *365R, *418S, *515C, *539T),...

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Source

Identifiers

PMID: 9191541

Genes

BCHE

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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