2006
Sub‐Saharan African coding sequence variation and haplotype diversity at the NAT2 gene
Patin E, Harmant C, Kidd K, Kidd J, Froment A, Mehdi S, Sica L, Heyer E, Quintana‐Murci L. Sub‐Saharan African coding sequence variation and haplotype diversity at the NAT2 gene. Human Mutation 2006, 27: 720-720. PMID: 16786516, DOI: 10.1002/humu.9438.Peer-Reviewed Original ResearchConceptsNon-synonymous mutationsNovel non-synonymous mutationsEvolutionary conservationDetailed genetic characterizationIndividuals/populationsHaplotype diversityAgriculturalist populationsSequence variationProtein activityAfrican populationsWestern PygmiesAfrican haplotypesGenetic characterizationUnknown functional effectsGenesFunctional effectsNAT2 geneHaplotype frequenciesSub-Saharan African populationsMutationsChromosomesDamaging effectsLociPopulationProtein
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 ResearchHomozygosity by descent for a rare mutation in the myophosphorylase gene is associated with variable phenotypes in a Druze family with McArdle disease.
Iyengar S, Kalinsky H, Weiss S, Korostishevsky M, Sadeh M, Zhao Y, Kidd K, Bonne-Tamir B. Homozygosity by descent for a rare mutation in the myophosphorylase gene is associated with variable phenotypes in a Druze family with McArdle disease. Journal Of Medical Genetics 1997, 34: 391. PMID: 9152836, PMCID: PMC1050946, DOI: 10.1136/jmg.34.5.391.Peer-Reviewed Original Research