@article{oai:hama-med.repo.nii.ac.jp:00002378,
 author = {前川, 真人 and 須藤, 加代子 and Dilip, Chandra  Dey and 小谷, 一夫 and 石川, 仁子 and 泉, 正和 and 臼田, 多佳志 and 菅野, 剛史},
 issue = {3},
 journal = {生物物理化学},
 month = {Jun},
 note = {Fourteen individuals with low serum cholinesterase activity were examined by genetic analysis. All of these were considered to be due to silent gene because their dibucaine number and fluoride number were similar to reference values. PCR-SSCP analysis and following direct DNA sequencing analysis disclosed five missense or nonsense mutations in 11 individuals: 2 individuals with C to T mutation at codon 24 (Thr to Met), 2 individuals with G to C mutation at codon 365  (Gly to Arg), 3 individuals with T to A mutation at codon 330 (Leu to Ile), 1 individual with C to T mutation at codon 119 (Gln to stop) and 3 individuals with C to T mutation at codon 515 (Arg to Cys). For K variant, 3 homozygous individuals and 8 heterozygous individuals were determined. All of 14 individuals with low serum cholinesterase activity revealed genetic mutation in cholinesterase gene. Therefore, we should be aware of the existence of genetic mutations causing hypocholinesterasemia in laboratory diagnosis.},
 pages = {201--208},
 title = {低コリンエステラーゼ血症例における変異遺伝子の解析},
 volume = {38},
 year = {1994}
}