HomozygoteHeterozygoteHeterozygote DetectionGenotypeAllelesPolymorphism, GeneticMutationGene FrequencyPhenotypePedigreeGenetic Predisposition to DiseaseHemochromatosisPolymorphism, Single NucleotideGenetic VariationHaplotypesGenes, RecessiveGenes, LethalPolymerase Chain ReactionCase-Control StudiesThalassemiaCrosses, GeneticBase SequenceHyperlipoproteinemia Type IIMice, Mutant StrainsPoint MutationDNA Mutational AnalysisGenes, DominantMolecular Sequence DataRisk FactorsAtaxia TelangiectasiaGenetic TestingMutation, MissenseExonsHemoglobins, AbnormalPolymorphism, Restriction Fragment LengthHyperlipoproteinemia Type IGenetic LinkageModels, GeneticHemoglobin EJewsAlbinismGenetic MarkersChromosome MappingAsian Continental Ancestry GroupDNAHemoglobin A2Apolipoprotein E2Genetics, PopulationHypobetalipoproteinemiasalpha-ThalassemiaMethylenetetrahydrofolate Reductase (NADPH2)Linkage DisequilibriumGenetic Association StudiesFetal HemoglobinCohort StudiesCatechol O-MethyltransferaseInbreedingHemoglobinopathiesAmino Acid SubstitutionMice, KnockoutEuropean Continental Ancestry GroupEthylnitrosoureaTreatment Outcomealpha 1-Antitrypsin DeficiencyMicrosatellite RepeatsDNA PrimersShrewsProspective StudiesReference ValuesTime FactorsSelection, GeneticHair ColorXanthomatosisMembrane ProteinsHypolipoproteinemiasReproducibility of ResultsGene DeletionMetabolism, Inborn ErrorsSensitivity and SpecificityGlobinsGenesFerritinsCystinuriaSequence Analysis, DNACystic FibrosisTay-Sachs DiseaseMice, Inbred C57BLPrevalencebeta-ThalassemiaLipid Metabolism, Inborn ErrorsSeverity of Illness IndexFrameshift MutationRetrospective StudiesAge of OnsetHistocompatibility Antigens Class IOdds RatioApolipoproteins BGaucher DiseaseGlucosephosphate Dehydrogenase DeficiencyApolipoproteins E