2003
A revised allele frequency estimate and haplotype analysis of the DBH deficiency mutation IVS1+2T → C in African‐ and European‐Americans
Zabetian CP, Romero R, Robertson D, Sharma S, Padbury JF, Kuivaniemi H, Kim K, Kim C, Köhnke MD, Kranzler HR, Gelernter J, Cubells JF. A revised allele frequency estimate and haplotype analysis of the DBH deficiency mutation IVS1+2T → C in African‐ and European‐Americans. American Journal Of Medical Genetics Part A 2003, 123A: 190-192. PMID: 14598346, DOI: 10.1002/ajmg.a.20300.Peer-Reviewed Original Research
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
1997
Population genetics of a functional variant of the dopamine β‐hydroxylase gene (DBH)
Cubells J, Kobayashi K, Nagatsu T, Kidd K, Kidd J, Calafell F, Kranzler H, Ichinose H, Gelernter J. Population genetics of a functional variant of the dopamine β‐hydroxylase gene (DBH). American Journal Of Medical Genetics 1997, 74: 374-379. PMID: 9259372, DOI: 10.1002/(sici)1096-8628(19970725)74:4<374::aid-ajmg7>3.0.co;2-p.Peer-Reviewed Original Research