Genes, RecessiveButyryl-CoA DehydrogenaseMolecular Sequence DataGenetic VariationAlternative SplicingAmino Acid SequenceMutationBase SequenceExonsAmino Acid SubstitutionCloning, MolecularProtein IsoformsRNA, MessengerPolymerase Chain ReactionModels, MolecularCell LineRecombinant ProteinsProtein Structure, TertiaryDNAPedigreeConsanguinityKineticsProtein ConformationMutagenesis, Site-DirectedProtein FoldingGenotypeBlotting, WesternPhenotypeBinding SitesProtein BindingHomozygoteEscherichia coliAllelesRibosomal ProteinsChromosome MappingPolymorphism, Single NucleotideSequence Analysis, DNADNA Mutational AnalysisGenetic Predisposition to DiseaseGenetic LinkageMutation, MissensePolymorphism, GeneticHeterozygoteHaplotypesUbiquitin ThiolesteraseTranscription, GeneticGenesGene FrequencyPromoter Regions, GeneticPhylogenySequence AlignmentGenes, DominantSequence Homology, Amino AcidSequence Homology, Nucleic AcidGene Expression RegulationDNA PrimersPolycystic Kidney, Autosomal RecessiveCarrier ProteinsIntronsSyndromeThiolester HydrolasesBacterial ProteinsRestriction MappingGene ExpressionPoint MutationExomePlasmidsGenes, ViralGenetic Association StudiesModels, GeneticMultigene FamilyMembrane ProteinsGenes, BacterialCrosses, GeneticCase-Control StudiesGenetic MarkersRetinitis PigmentosaCodonLod ScoreDNA-Binding ProteinsFrameshift MutationGenes, LethalSequence DeletionDNA, ComplementaryGenome-Wide Association StudyPrionsTranscription FactorsPolymorphism, Restriction Fragment LengthAbnormalities, MultipleCapsidCodon, NonsenseSpecies SpecificityPlant ProteinsIchthyosisEvolution, MolecularProteinsReverse Transcriptase Polymerase Chain ReactionBlotting, NorthernGenetic TestingCreutzfeldt-Jakob Syndrome