HomozygoteHeterozygoteGenes, DominantHeterozygote DetectionGenotypeAllelesPolymorphism, GeneticMutationPedigreePhenotypeGene FrequencyGenetic Predisposition to DiseaseHemochromatosisPolymorphism, Single NucleotideGenes, RecessiveHaplotypesGenetic VariationGenes, LethalMolecular Sequence DataBase SequencePolymerase Chain ReactionCrosses, GeneticDNA Mutational AnalysisPoint MutationGenetic LinkageMutation, MissenseMice, Mutant StrainsThalassemiaHyperlipoproteinemia Type IICase-Control StudiesExonsChromosome MappingPolymorphism, Restriction Fragment LengthGenetic TestingAtaxia TelangiectasiaGenetic MarkersModels, GeneticHemoglobins, AbnormalHyperlipoproteinemia Type IHemoglobin EJewsAlbinismDNAAmino Acid SubstitutionDNA PrimersHemoglobin A2Genetic Association StudiesGenetics, PopulationApolipoprotein E2HypobetalipoproteinemiasMice, KnockoutSequence Analysis, DNAalpha-ThalassemiaLinkage DisequilibriumMethylenetetrahydrofolate Reductase (NADPH2)Asian Continental Ancestry GroupMembrane ProteinsRisk FactorsFetal HemoglobinMicrosatellite RepeatsMice, Inbred C57BLFrameshift MutationInbreedingCatechol O-MethyltransferaseGene DeletionEthylnitrosoureaHair ColorHemoglobinopathiesSelection, GeneticSequence DeletionGenesShrewsPenetrancealpha 1-Antitrypsin DeficiencyCodon, NonsenseEuropean Continental Ancestry GroupHypolipoproteinemiasXanthomatosisGlobinsDrosophila melanogasterMetabolism, Inborn ErrorsRNA, MessengerPromoter Regions, GeneticAge of OnsetConsanguinityCystinuriaHistocompatibility Antigens Class ITay-Sachs DiseaseFerritinsbeta-ThalassemiaLipid Metabolism, Inborn ErrorsPolymorphism, Single-Stranded ConformationalFamily HealthApolipoproteins BCystic FibrosisMice, TransgenicApolipoproteins EDNA-Binding ProteinsGlucosephosphate Dehydrogenase DeficiencyGaucher Disease