Frameshift MutationPedigreeBase SequenceMolecular Sequence DataDNA Mutational AnalysisPoint MutationMutation, MissenseMutationAmino Acid SequenceOpen Reading FramesExonsCodon, NonsensePolymorphism, Single-Stranded ConformationalCloning, MolecularPolymerase Chain ReactionCodonGerm-Line MutationSequence DeletionHeterozygoteSequence Analysis, DNACodon, TerminatorHomozygoteAllelesPhenotypeSequence Homology, Amino AcidGene DeletionRNA SplicingAlternative SplicingDNA PrimersRNA, MessengerMutation RateDNADNA, ComplementaryIntrons