Two CES1 Gene Mutations Lead to Dysfunctional Carboxylesterase 1 Activity in Man: Clinical Significance and Molecular Basis - Zhu, Hao-Jie; Patrick, Kennerly S.; Yuan, Hong-Jie; Wang, Jun-Sheng; Donovan, Jennifer L.; DeVane, C. Lindsay; Malcolm, Robert; Johnson, Julie A.; Youngblood, Geri L.; Sweet, Douglas H.; Langaee, Taimour Y.; Markowitz, John S. (American journal of human genetics, 2008)
Keywords: Alleles; Amino Acid Substitution; Base Sequence; Biological and medical sciences; Carboxylic Ester Hydrolases - deficiency; Carboxylic Ester Hydrolases - genetics; Carboxylic Ester Hydrolases - metabolism; Catalytic Domain - genetics; Cell Line; Central Nervous System Stimulants - chemistry; Central Nervous System Stimulants - pharmacokinetics; Codon, Nonsense - genetics; Continental Population Groups - genetics; DNA Primers - genetics; Ethnic Groups - genetics; Female; Frameshift Mutation; Fundamental and applied biological sciences. Psychology; Gene Frequency; General aspects. Genetic counseling; Genetics of eukaryotes. Biological and molecular evolution; Humans; Kinetics; Male; Medical genetics; Medical sciences; Methylphenidate - chemistry; Methylphenidate - pharmacokinetics; Molecular and cellular biology; Mutation; Pharmacogenetics; Point Mutation; Polymorphism, Single Nucleotide; Stereoisomerism; Substrate Specificity; Human; Gene; Enzyme; Hydrolases; Activity; Genetics; Esterases; Mutation; Carboxylesterase; Carboxylic ester hydrolases