Point MutationMutation, MissenseMutationUrticariaFrameshift MutationSyndromePedigreeGerm-Line MutationMeningitisCarrier ProteinsDNA Mutational AnalysisMutation RateCryopyrin-Associated Periodic SyndromesExonsMosaicismBase SequenceHeterozygoteMolecular Sequence DataAmino Acid SubstitutionPolymerase Chain ReactionAmino Acid SequenceAllelesGenetic HeterogeneityPolymorphism, Single-Stranded ConformationalMutagenesis, Site-DirectedFeverCodon, NonsenseGenotypeHomozygoteMutagenesisSequence Analysis, DNAInterleukin 1 Receptor Antagonist ProteinHearing Loss, SensorineuralSkin DiseasesGenes, RecessiveDeafnessSequence DeletionGenes, DominantGenetic TestingProtein Structure, TertiaryDNA PrimersEscherichia coliSuppression, GeneticPhenotypeModels, MolecularChromosome MappingCodonCell LineBinding SitesBlood ProteinsIntellectual DisabilitySequence Homology, Amino AcidDNA-Binding ProteinsArthritisGenetic Complementation TestGene DeletionCytoskeletal ProteinsFounder EffectTranscription FactorsAmyloidosisGenes, p53Cloning, MolecularAutoimmune DiseasesProtein BindingSequence AlignmentDNAInflammationMutant ProteinsGenetic LinkageGenetic Predisposition to DiseaseSaccharomyces cerevisiaeMembrane ProteinsConsanguinityBacterial ProteinsPlasmidsModels, GeneticTransfectionGenes, LethalNuclear ProteinsHeterozygote DetectionExomePolymorphism, GeneticDNA, MitochondrialProto-Oncogene Proteins B-rafGenes, BRCA1Mutagenesis, InsertionalFamily HealthTranscription, GeneticGene FrequencyPromoter Regions, GeneticDNA, NeoplasmGenetic VariationIntronsGenes, BacterialProtein ConformationRNA, MessengerRecombination, GeneticMicrosatellite RepeatsStructure-Activity RelationshipDrug Resistance, Viral