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A Family with Hereditary Serum Cholinesterase Deficiency
1995
Internal medicine (Tokyo. 1992)
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A family with serum cholinesterase (SC hE) deficiency is reported. A 64-year-old womanwas admitted for the excision of colon adenoma: chain reaction (PCR) and analyzed by d her laboratory data revealed amarkedly decreased level ofSChE. SChEgenes ofthe patient and her family memberswere amplified by the polymerase rect sequencing. The patient's SChEgene had a homozygous frame shift mutation, in which an extra adenine was inserted in codon 315 (ACC^AACC),resulting in the appearance of a new stop
doi:10.2169/internalmedicine.34.632
fatcat:7pe5ltfnp5fnphllxhtf45vube