Characterization of 12 silent alleles of the human butyrylcholinesterase (BCHE) gene

The silent phenotype of human butyrylcholinesterase (BChE), present in most human populations in frequencies of approximately 1/100,000, is characterized by the complete absence of BChE activity or by activity

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Bibliographische Detailangaben
Veröffentlicht in:	American journal of human genetics 1996, Vol.58 (1), p.52-64
Hauptverfasser:	PRIMO-PARMO, S. L, BARTELS, C. F, WIERSEMA, B, VAN DER SPEK, A. F. L, INNIS, J. W, LA DU, B. N
Format:	Artikel
Sprache:	eng
Schlagworte:	Alleles Amino Acid Sequence Animals Base Sequence Biological and medical sciences Butyrylcholinesterase - biosynthesis Butyrylcholinesterase - blood Butyrylcholinesterase - genetics Cell Line DNA Primers Exons Female Gene Frequency General pharmacology Hominidae - genetics Humans Introns Kidney Kinetics Male Medical sciences Molecular Sequence Data Mutagenesis, Site-Directed Pedigree Pharmacokinetics. Pharmacogenetics. Drug-receptor interactions Pharmacology. Drug treatments Phenotype Point Mutation Polymerase Chain Reaction Recombinant Proteins - biosynthesis Recombinant Proteins - metabolism Sequence Homology, Amino Acid Transfection
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Beschreibung
Zusammenfassung:	The silent phenotype of human butyrylcholinesterase (BChE), present in most human populations in frequencies of approximately 1/100,000, is characterized by the complete absence of BChE activity or by activity
ISSN:	0002-9297 1537-6605