Point MutationMutation, MissenseMutationFrameshift MutationGerm-Line MutationPedigreeMutation RateHeterozygoteBase SequenceExonsAmino Acid SubstitutionPolymerase Chain ReactionDNA Mutational AnalysisMolecular Sequence DataAbnormalities, MultipleAllelesPolymorphism, Single-Stranded ConformationalHomozygoteGenotypeAmino Acid SequenceMutagenesis, Site-DirectedPhenotypeCodon, NonsenseMutagenesisSequence Analysis, DNAGenes, RecessiveSyndromeGenes, DominantSequence DeletionGenetic TestingChromosome AberrationsEye AbnormalitiesDNA PrimersChromosome MappingProtein Structure, TertiaryGene DeletionEscherichia coliSuppression, GeneticDNA-Binding ProteinsCell LineModels, MolecularCodonTranscription FactorsSequence Homology, Amino AcidBinding SitesGenes, p53Genetic Complementation TestDNAGenetic LinkageMembrane ProteinsGenetic Predisposition to DiseaseConsanguinityCloning, MolecularFounder EffectProtein BindingMutant ProteinsSequence AlignmentKaryotypingCongenital AbnormalitiesGenes, LethalChromosome DisordersNuclear ProteinsModels, GeneticSaccharomyces cerevisiaeRNA, MessengerPlasmidsTransfectionBacterial ProteinsHeterozygote DetectionPolymorphism, GeneticCraniofacial AbnormalitiesMice, Mutant StrainsDNA, NeoplasmFamily HealthDNA, MitochondrialCarrier ProteinsMagnetic Resonance ImagingTranscription, GeneticExomeMutagenesis, InsertionalBrainSignal TransductionProto-Oncogene Proteins B-rafPromoter Regions, GeneticGenes, BRCA1Genetic VariationMice, TransgenicGene FrequencyAge of OnsetIntronsDisease Models, AnimalMicrosatellite RepeatsChromosome DeletionInfant, NewbornCrosses, GeneticProtein ConformationRecombinant ProteinsRecombination, GeneticSkin AbnormalitiesGenes, Bacterial