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Debrisoquine hydroxylase gene polymorphism (CYP2D6*4) in dementia with Lewy bodies. 2003

C Huckvale, and A M T Richardson, and D M A Mann, and S M Pickering-Brown

UI MeSH Term Description Entries
D011110 Polymorphism, Genetic The regular and simultaneous occurrence in a single interbreeding population of two or more discontinuous genotypes. The concept includes differences in genotypes ranging in size from a single nucleotide site (POLYMORPHISM, SINGLE NUCLEOTIDE) to large nucleotide sequences visible at a chromosomal level. Gene Polymorphism,Genetic Polymorphism,Polymorphism (Genetics),Genetic Polymorphisms,Gene Polymorphisms,Polymorphism, Gene,Polymorphisms (Genetics),Polymorphisms, Gene,Polymorphisms, Genetic
D004252 DNA Mutational Analysis Biochemical identification of mutational changes in a nucleotide sequence. Mutational Analysis, DNA,Analysis, DNA Mutational,Analyses, DNA Mutational,DNA Mutational Analyses,Mutational Analyses, DNA
D005787 Gene Frequency The proportion of one particular in the total of all ALLELES for one genetic locus in a breeding POPULATION. Allele Frequency,Genetic Equilibrium,Equilibrium, Genetic,Allele Frequencies,Frequencies, Allele,Frequencies, Gene,Frequency, Allele,Frequency, Gene,Gene Frequencies
D005838 Genotype The genetic constitution of the individual, comprising the ALLELES present at each GENETIC LOCUS. Genogroup,Genogroups,Genotypes
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D001057 Apolipoproteins E A class of protein components which can be found in several lipoproteins including HIGH-DENSITY LIPOPROTEINS; VERY-LOW-DENSITY LIPOPROTEINS; and CHYLOMICRONS. Synthesized in most organs, Apo E is important in the global transport of lipids and cholesterol throughout the body. Apo E is also a ligand for LDL receptors (RECEPTORS, LDL) that mediates the binding, internalization, and catabolism of lipoprotein particles in cells. There are several allelic isoforms (such as E2, E3, and E4). Deficiency or defects in Apo E are causes of HYPERLIPOPROTEINEMIA TYPE III. Apo-E,Apo E,Apo E Isoproteins,ApoE,Apolipoprotein E Isoproteins,Apoprotein (E),Apoproteins E,Isoproteins, Apo E,Isoproteins, Apolipoprotein E
D017668 Age of Onset The age, developmental stage, or period of life at which a disease or the initial symptoms or manifestations of a disease appear in an individual. Age-at-Onset,Age at Onset,Onset Age
D019389 Cytochrome P-450 CYP2D6 A cytochrome P450 enzyme that catalyzes the hydroxylation of many drugs and environmental chemicals, such as DEBRISOQUINE; ADRENERGIC RECEPTOR ANTAGONISTS; and TRICYCLIC ANTIDEPRESSANTS. This enzyme is deficient in up to 10 percent of the Caucasian population. CYP2D6,Debrisoquine 4-Hydroxylase,Debrisoquine Hydroxylase,CYP 2D6,Cytochrome P450 2D6,Debrisoquine 4-Monooxygenase,Imipramine 2-Hydroxylase,Sparteine Monooxygenase,2-Hydroxylase, Imipramine,4-Hydroxylase, Debrisoquine,4-Monooxygenase, Debrisoquine,CYP2D6, Cytochrome P-450,Cytochrome P 450 CYP2D6,Debrisoquine 4 Hydroxylase,Debrisoquine 4 Monooxygenase,Hydroxylase, Debrisoquine,Imipramine 2 Hydroxylase,Monooxygenase, Sparteine,P-450 CYP2D6, Cytochrome,P450 2D6, Cytochrome
D020961 Lewy Body Disease A neurodegenerative disease characterized by dementia, mild parkinsonism, and fluctuations in attention and alertness. The neuropsychiatric manifestations tend to precede the onset of bradykinesia, MUSCLE RIGIDITY, and other extrapyramidal signs. DELUSIONS and visual HALLUCINATIONS are relatively frequent in this condition. Histologic examination reveals LEWY BODIES in the CEREBRAL CORTEX and BRAIN STEM. SENILE PLAQUES and other pathologic features characteristic of ALZHEIMER DISEASE may also be present. (From Neurology 1997;48:376-380; Neurology 1996;47:1113-1124) Dementia, Lewy Body,Diffuse Lewy Body Disease,Cortical Lewy Body Disease,Lewy Body Dementia,Lewy Body Disease, Cortical,Lewy Body Disease, Diffuse,Lewy Body Type Senile Dementia

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