2002
Serotonin transporter promoter variants in autism: functional effects and relationship to platelet hyperserotonemia
Anderson G, Gutknecht L, Cohen DJ, Brailly-Tabard S, Cohen JH, Ferrari P, Roubertoux PL, Tordjman S. Serotonin transporter promoter variants in autism: functional effects and relationship to platelet hyperserotonemia. Molecular Psychiatry 2002, 7: 831-836. PMID: 12232775, DOI: 10.1038/sj.mp.4001099.Peer-Reviewed Original ResearchAdolescentAutistic DisorderBlood PlateletsCarrier ProteinsChildCitalopramFemaleGenetic VariationGenotypeHumansLinear ModelsMaleMembrane GlycoproteinsMembrane Transport ProteinsNerve Tissue ProteinsPromoter Regions, GeneticSelective Serotonin Reuptake InhibitorsSerotoninSerotonin Plasma Membrane Transport Proteins
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