Genetic mutations of butyrylcholine esterase identified from phenotypic abnormalities in Japan
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چکیده
منابع مشابه
Genetic mutations of butyrylcholine esterase identified from phenotypic abnormalities in Japan.
We have identified 12 kinds of genetic mutations of butyrylcholine esterase (BCHE) from phenotypic abnormalities, showing that BCHE activities were deficient or diminished in sera. These genetic mutations, detected by PCR-single-strand conformation polymorphism analysis and direct sequencing, consisted of one deletion (BCHE*FS4), nine missense (BCHE*24 M, *1005, *250P, *267R, *330I, *365R, *418...
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ژورنال
عنوان ژورنال: Clinical Chemistry
سال: 1997
ISSN: 0009-9147,1530-8561
DOI: 10.1093/clinchem/43.6.924