| Title : A variant serum cholinesterase and a confirmed point mutation at Gly-365 to Arg found in a patient with liver cirrhosis - Hada_1992_Intern.Med_31_357 |
| Author(s) : Hada T , Muratani K , Ohue T , Imanishi H , Moriwaki Y , Itoh M , Amuro Y , Higashino K |
| Ref : Intern Med , 31 :357 , 1992 |
|
Abstract :
A 64-year-old man was admitted to our hospital because of possible liver cirrhosis. His serum cholinesterase was anomalously low with a delta pH of 0.1 (normal range; 0.8-1.1). His enzyme was more heat-labile than the normal controls. Km value of his enzyme for benzoylcholine was 1.1 x 10(-5) mol/l, while that for normal controls was 2.3 x 10(-6) mol/l. In addition, isozymic alteration of his enzyme was observed. Sequencing of the white blood cell DNA of the patient showed a point mutation at nucleotide 1093 (GGA to CGA), which changes codon 365 from glycine to arginine. |
| PubMedSearch : Hada_1992_Intern.Med_31_357 |
| PubMedID: 1611188 |
| Mutation | G365R_human-BCHE |
Hada T, Muratani K, Ohue T, Imanishi H, Moriwaki Y, Itoh M, Amuro Y, Higashino K (1992)
A variant serum cholinesterase and a confirmed point mutation at Gly-365 to Arg found in a patient with liver cirrhosis
Intern Med
31 :357
Hada T, Muratani K, Ohue T, Imanishi H, Moriwaki Y, Itoh M, Amuro Y, Higashino K (1992)
Intern Med
31 :357