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Article

Novel mutations in the BCHE gene in patients with no butyrylcholinesterase activity.

Clinica chimica acta; international journal of clinical chemistry - 1 Jan 2005

On-Kei Chan Angel, Lam Ching-Wan, Tong Sui-Fan, Man Tung Cheng, Yung Kwok, Chan Yan-Wo, Au Kam-Ming, Yuen Yuet-Ping, Hung Chi-Tim, Ng Kin-Pong, Shek Chi-Chung

Abstract excerpt

BACKGROUND: Butyrylcholinesterase (BCHE) deficiency is characterized by prolonged apnea after the use of certain muscle relaxants with the genetic defect lying in the BCHE gene. METHODS: Two Chinese patients with no serum BCHE activity were studied. The BCHE genes were screened for mutations by polymerase chain reaction and direct DNA sequencing. RESULTS: Of the four mutations detected, two novel mutations were...

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Identifiers

PMID: 15563885
DOI: 10.1016/j.cccn.2004.09.004

Genes

BCHE

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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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