2001
A Quantitative-Trait Analysis of Human Plasma–Dopamine β-Hydroxylase Activity: Evidence for a Major Functional Polymorphism at the DBH Locus
Zabetian C, Anderson G, Buxbaum S, Elston R, Ichinose H, Nagatsu T, Kim K, Kim C, Malison R, Gelernter J, Cubells J. A Quantitative-Trait Analysis of Human Plasma–Dopamine β-Hydroxylase Activity: Evidence for a Major Functional Polymorphism at the DBH Locus. American Journal Of Human Genetics 2001, 68: 515-522. PMID: 11170900, PMCID: PMC1235285, DOI: 10.1086/318198.Peer-Reviewed Original ResearchConceptsQuantitative trait lociMajor quantitative trait locusMajor genetic markerH activityQuantitative trait analysisStructural geneGenotype/phenotype correlationMutational analysisExtreme phenotypesGenetic markersDBH geneHuman diseasesGenesDBH locusNovel polymorphismsCodominant inheritancePhenotype correlationUnidentified polymorphismsLociPlasma dopamine β-hydroxylase activityΒ-hydroxylase activityPolymorphismFunctional polymorphismsBeta HMajor functional polymorphisms
1998
Dopamine β-hydroxylase: two polymorphisms in linkage disequilibrium at the structural gene DBH associate with biochemical phenotypic variation
Cubells J, van Kammen D, Kelley M, Anderson G, O’Connor D, Price LH, Malison R, Rao P, Kobayashi K, Nagatsu T, Gelernter J. Dopamine β-hydroxylase: two polymorphisms in linkage disequilibrium at the structural gene DBH associate with biochemical phenotypic variation. Human Genetics 1998, 102: 533-540. PMID: 9654201, DOI: 10.1007/s004390050736.Peer-Reviewed Original Research
1982
Clinical neurochemistry of autism and associated disorders
Young J, Kavanagh M, Anderson G, Shaywitz B, Cohen D. Clinical neurochemistry of autism and associated disorders. Journal Of Autism And Developmental Disorders 1982, 12: 147-165. PMID: 6184361, DOI: 10.1007/bf01531305.Peer-Reviewed Original ResearchConceptsNorepinephrine metabolismNeurochemical methodsClinical neurochemistryClinical studiesNeurochemical studiesBehavioral deficitsBiochemical dysfunctionBrain functionAutistic syndromeInfantile autismLow levelsNew studiesAutismDysfunctionSerotoninSyndromeAutistic individualsSymptomsNeurochemistryBrainMajor obstacle