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Article

Three different point mutations in the butyrylcholinesterase gene of three Japanese subjects with a silent phenotype: possible Japanese type alleles.

Clinical biochemistry - 1 Apr 1996

Sudo K, Maekawa M, Kanno T, Akizuki S, Magara T

Abstract excerpt

OBJECTIVE: To investigate genetic mutations in three Japanese subjects homozygous for silent butyrylcholinesterase mutations. METHODS AND RESULTS: One of them was compound heterozygous for two mutations; GGA(Gly) to CGA(Arg) at codon 365 (G365R) and CAA(Gln) to TAA(Ter) at codon 119 (Q119X). The other two subjects were homozygous for different missense mutations: CGT(Arg) to TGT(Cys) at codon 515 (R515C) and...

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PMID: 8601326
DOI: 10.1016/0009-9120(95)02029-2

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CGA

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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