Problem with detection of an insertion-type mutation in the BCHE gene in a patient with butyrylcholinesterase deficiency

Clinical Chemistry

Volumn 50, Issue 12, 2004, Pages 2410-2411

  Maekawa, Masato ^a   Taniguchi, Terumi ^a   Ishikawa, Jinko ^a   Toyoda, Shigeru ^b   Takahata, Noriko ^b  

^a HAMAMATSU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^b Hosp Affil Kanagawa Pref Sch N   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

CHOLINESTERASE;

ALU SEQUENCE; ARTICLE; BCHE GENE; BUTYRYLCHOLINESTERASE DEFICIENCY; DNA DETERMINATION; ENZYME DEFICIENCY; GENE; GENE AMPLIFICATION; GENE INSERTION; GENE MUTATION; GENETIC ANALYSIS; GENETIC VARIABILITY; GENOTYPE; HUMAN; HUMAN CELL; LABORATORY DIAGNOSIS;

BUTYRYLCHOLINESTERASE; CHILD, PRESCHOOL; ELECTROPHORESIS, AGAR GEL; HUMANS; MALE; MUTAGENESIS, INSERTIONAL; POLYMERASE CHAIN REACTION;

EID: 9244255851     PISSN: 00099147     EISSN: None     Source Type: Journal    
DOI: 10.1373/clinchem.2004.041129     Document Type: Article

References (10)

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