Mutation, MissenseDNA Mutational AnalysisPedigreeMutationMolecular Sequence DataExonsAmino Acid SequencePhenotypeBase SequencePolymorphism, Single-Stranded ConformationalCodon, NonsenseFrameshift MutationHeterozygotePoint MutationAmino Acid SubstitutionHomozygoteAllelesGenes, RecessiveGenes, DominantConsanguinitySyndromeGenotypeSequence Analysis, DNAPolymerase Chain ReactionGerm-Line MutationSequence Homology, Amino AcidGenetic LinkageProtein Structure, TertiaryFamily HealthGenetic Predisposition to DiseaseSequence AlignmentMutant ProteinsAbnormalities, MultipleGenetic TestingCodonGenetic Diseases, X-LinkedEye AbnormalitiesSequence DeletionModels, MolecularDNA PrimersHaplotypesChromosome MappingPolymorphism, Single NucleotidePolymorphism, GeneticMental Retardation, X-LinkedGenetic VariationCOS CellsDNA-Binding ProteinsSuppression, GeneticMutagenesis, Site-DirectedGenetic Association StudiesRetinitis PigmentosaIntronsAge of OnsetEye ProteinsGenes, p53Membrane ProteinsTransfectionGene FrequencyCell LineCarrier ProteinsHearing Loss, SensorineuralRNA SplicingBlepharophimosisEctodermal DysplasiaCerebellar AtaxiaRNA Splice SitesAniridiaConserved SequenceDNAHeterozygote DetectionGene DeletionGonadal Dysgenesis, 46,XYProtein BindingGenetic HeterogeneityIntellectual DisabilityFaciesFamilyProteinsTranscription FactorsAsian Continental Ancestry GroupNuclear ProteinsEthylnitrosoureaDeafnessDNA, ComplementaryCraniofacial AbnormalitiesOsteochondrodysplasiasAfibrinogenemiaTumor Suppressor ProteinsMutagenesisBRCA1 ProteinMicrophthalmosNoonan SyndromeGenetic Complementation TestAmino Acid Metabolism, Inborn ErrorsSynostosisMutS Homolog 2 ProteinCloning, MolecularFounder EffectProtein Conformation