Codon, NonsenseMutationPoint MutationMutation, MissenseFrameshift MutationPedigreeDNA Mutational AnalysisExonsBase SequenceMolecular Sequence DataCodon, TerminatorSuppression, GeneticHomozygoteGerm-Line MutationGenes, RecessiveHeterozygotePhenotypePolymorphism, Single-Stranded ConformationalConsanguinityAllelesAmino Acid SequencePolymerase Chain ReactionCodonSequence Analysis, DNAGenes, DominantSequence DeletionGenotypeNonsense Mediated mRNA DecayChromosome MappingAmino Acid SubstitutionDNA PrimersRNA, MessengerSyndromeGenetic LinkageRNA SplicingMutagenesisMutation RateIntronsPeptide Chain Termination, TranslationalEscherichia coliExomeMutagenesis, Site-DirectedAmelogenesis ImperfectaGene DeletionFounder EffectGenetic TestingGenesGenetic Complementation TestDNARNA Splice SitesGenetic Diseases, X-LinkedCloning, MolecularAbnormalities, MultipleEye AbnormalitiesSequence Homology, Amino AcidAminoglycosidesTranscription FactorsHeterozygote DetectionMembrane ProteinsSaccharomyces cerevisiaeParomomycinFamily HealthPolymorphism, GeneticEye ProteinsProtein Structure, TertiaryCell LineProtein BiosynthesisRetinitis PigmentosaGenetic Predisposition to DiseaseDNA-Binding ProteinsAmebicidesGenes, SuppressorPlasmidsAlternative SplicingGenetic CodeEthylnitrosoureaAniridiaEye Diseases, HereditaryTranscription, GeneticSequence AlignmentOxadiazolesModels, MolecularCarrier ProteinsGenes, p53TransfectionGenes, LethalOsteochondrodysplasiasAge of OnsetModels, GeneticBacterial ProteinsIntellectual DisabilityGenetic HeterogeneityProteinsGenes, BacterialGenetic Association StudiesPolymorphism, Single NucleotideMental Retardation, X-LinkedDNA, ComplementaryNuclear ProteinsAsian Continental Ancestry Group