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Article

Nonsense mutation in exon 2 of the butyrylcholinesterase gene: a case of familial cholinesterasemia.

Clinica chimica acta; international journal of clinical chemistry - 6 May 1997

Hidaka K, Iuchi I, Yamasaki T, Ueda N, Hukano K

Abstract excerpt

A point mutation that causes a silent phenotype for human serum butyrylcholinesterase (BChE) was proved by DNA analyses of a 64-year-old Japanese female who visited the hospital because of a common cold. The propositus and her two siblings showed extremely low BChE activity, but other family members (six individuals) manifested from intermediate to normal values of BChE activity. An immunological method revealed...

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PMID: 9187502
DOI: 10.1016/s0009-8981(96)06498-4

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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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