MutationPoint MutationMutation, MissenseFrameshift MutationGerm-Line MutationPedigreeMutation RateExonsBase SequenceHeterozygoteAmino Acid SubstitutionPolymerase Chain ReactionDNA Mutational AnalysisMolecular Sequence DataAllelesPolymorphism, Single-Stranded ConformationalMutagenesis, Site-DirectedAmino Acid SequenceCodon, NonsenseGenotypeHomozygoteMutagenesisSequence Analysis, DNAGenes, RecessiveSequence DeletionGenes, DominantGenetic TestingProtein Structure, TertiaryDNA PrimersEscherichia coliSuppression, GeneticPhenotypeModels, MolecularChromosome MappingCodonCell LineBinding SitesSequence Homology, Amino AcidDNA-Binding ProteinsGenetic Complementation TestGene Deletion