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

doi:10.1016/s0009-8981(96)06498-4

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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 memb...

Topics

Butyrylcholinesterase
Cholinesterases
DNA Mutational Analysis
Electrophoresis, Polyacrylamide Gel
Exons
Female
Genotype
Humans
Isoenzymes
Japan
Middle Aged
Pedigree
Point Mutation

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