| Title : Identification of Missense Mutation (G365R) of the Butyrylcholinesterase (BCHE) Gene in a Japanese Patient with Familial Cholinesterasemia - Sakamoto_2001_Kobe.J.Med.Sci_47_153 |
| Author(s) : Sakamoto N , Maeda T , Hidaka K , Teranishi T , Toyoda M , Onishi Y , Kuroda S , Sakaguchi K , Fujisawa T , Maeda M , Watanabe Y , Iuchi I |
| Ref : Kobe J Med Sci , 47 :153 , 2001 |
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Abstract :
A point mutation which caused a silent phenotype of human serum butyrylcholinesterase (BChE) was identified in the genomic DNA of a 57-year-old Japanese woman who visited our hospital because of pneumonia. The propositus exhibited an unusually low level of BChE activity, whereas her son and daughter had an intermediate level. Immunologically, there was an absence of BChE protein in the propositus's serum. DNA sequence analysis of the propositus demonstrated a point mutation at codon 365 (GGA-CGA), resulting in a Gly-Arg substitution. A family study showed her son and daughter to have the same mutation. |
| PubMedSearch : Sakamoto_2001_Kobe.J.Med.Sci_47_153 |
| PubMedID: 11733654 |
| Mutation | G365R_human-BCHE |
Sakamoto N, Maeda T, Hidaka K, Teranishi T, Toyoda M, Onishi Y, Kuroda S, Sakaguchi K, Fujisawa T, Maeda M, Watanabe Y, Iuchi I (2001)
Identification of Missense Mutation (G365R) of the Butyrylcholinesterase (BCHE) Gene in a Japanese Patient with Familial Cholinesterasemia
Kobe J Med Sci
47 :153
Sakamoto N, Maeda T, Hidaka K, Teranishi T, Toyoda M, Onishi Y, Kuroda S, Sakaguchi K, Fujisawa T, Maeda M, Watanabe Y, Iuchi I (2001)
Kobe J Med Sci
47 :153