[Rapid detection of BCHE atypical variant (p.Asp70Gly) by high resolution melting curve analysis].

doi:10.1684/abc.2014.0994

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Article

[Rapid detection of BCHE atypical variant (p.Asp70Gly) by high resolution melting curve analysis].

Annales de biologie clinique - 1 Jan 2000

Mabboux Isabelle, Dos Santos Mélanie, Courcelle Sébastien, Hary Blandine, Ceppa Franck, Delacour Hervé

Abstract excerpt

Butyrylcholinesterase (BChE) deficiency is characterized by prolonged apnea after the use of muscle relaxants (suxamethonium or mivacurium). Although many acquired conditions may affect BChE activity, BChE deficiency is mainly due to mutations in the BCHE gene (MIM 177400). Though close to 70 natural mutations have been documented in human BCHE, the atypical variant (rs1799807) is the most frequently involved in...

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PMID: 25336127
DOI: 10.1684/abc.2014.0994

Genes

BCHE

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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