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Article

Identification of a point mutation associated with a silent phenotype of human serum butyrylcholinesterase--a case of familial cholinesterasemia.

Clinica chimica acta; international journal of clinical chemistry - 22 Jun 1998

Sakamoto N, Hidaka K, Fujisawa T, Maeda M, Iuchi I

Abstract excerpt

A point mutation which caused a silent phenotype of human serum butyrylcholinesterase (BChE) was identified in the DNA of a 47-year-old Japanese woman who visited our hospital complaining of hypertension. The propositus exhibited an unusually low level of BChE activity, whereas her younger sister and her daughter had intermediate levels of BChE activity and her elder sister a normal level. Immunologically, the...

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Source

Identifiers

PMID: 9694584
DOI: 10.1016/s0009-8981(98)00058-8

Genes

GCA

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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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Identification of a point mutation associated with a silent phenotype of human serum butyrylcholinesterase--a case of familial cholinesterasemia.PMID 9694584Read ↗

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Genetic mutations of butyrylcholine esterase identified from phenotypic abnormalities in Japan.Semantic proximity Read ↗

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