HeterozygoteHeterozygote DetectionHomozygoteAllelesTerminology as TopicMutationGenotypePedigreePhenotypePolymorphism, GeneticGene FrequencyThalassemiaBase SequenceMolecular Sequence DataGenes, RecessiveHyperlipoproteinemia Type IGenetic VariationHemoglobin A2DNA Mutational AnalysisPolymerase Chain ReactionGenes, DominantExonsCrosses, GeneticGenetic Predisposition to DiseaseGenes, LethalHaplotypesPoint MutationHemoglobins, AbnormalHemochromatosisAtaxia TelangiectasiaModels, GeneticHyperlipoproteinemia Type IIMutation, MissenseCystinuriaGenetic LinkageHypobetalipoproteinemiasTay-Sachs DiseaseHemoglobin EJewsChromosome MappingAdenine PhosphoribosyltransferaseRisk FactorsMice, Mutant StrainsPolymorphism, Single NucleotideGenetic TestingFetal Hemoglobinalpha-ThalassemiaGenetic MarkersGenetics, PopulationDNAPrevalenceCase-Control StudiesHemoglobinopathiesPolymorphism, Restriction Fragment LengthMicrosatellite RepeatsInbreedingConsensusMice, KnockoutAmino Acid SequenceShrewsUnited StatesSandhoff DiseaseReproducibility of Resultsbeta-ThalassemiaGlucosephosphate Dehydrogenase DeficiencyAmino Acid Metabolism, Inborn ErrorsSelection, GeneticSequence Analysis, DNAGlobinsPhenylketonuriasSyndromeInfant, NewbornTime FactorsFrameshift MutationCohort StudiesCodon, NonsenseSensitivity and SpecificityIntronsLipid Metabolism, Inborn ErrorsMetabolism, Inborn ErrorsGene DeletionMice, Inbred C57BLItalyDNA PrimersFabry DiseaseCystic FibrosisGenesHypolipoproteinemiasSeverity of Illness IndexConsanguinityHybrid VigorHexosaminidase AApolipoproteins BHomocystinuriaLipidosesSequence DeletionIncidencePregnancyLecithin Acyltransferase DeficiencyAlgorithms