MutationAdrenoleukodystrophyDNA, MitochondrialMolecular Sequence DataPhenotypePoint MutationPedigreeFibroblastsAmino Acid SequenceCells, CulturedHeart Septal Defects, VentricularHeart Defects, CongenitalHeart Septal Defects, AtrialBiochemical ProcessesBiochemical PhenomenaBase SequenceHeart Septal DefectsSequence Homology, Amino AcidProtein BindingSignal TransductionModels, BiologicalKineticsProtein Structure, TertiaryBiochemistryCell LineSaccharomyces cerevisiaeCloning, MolecularTime FactorsEscherichia coliModels, MolecularSaccharomyces cerevisiae ProteinsMembrane ProteinsRecombinant ProteinsMice, KnockoutGenetic Complementation TestCongenital AbnormalitiesGene DeletionDNA-Binding ProteinsSequence AlignmentSubstrate SpecificityTranscription FactorsGene Expression Regulation, DevelopmentalMicroscopy, ElectronBinding SitesTemperatureCarrier ProteinsFungal ProteinsDisease Models, AnimalElectrophoresis, Polyacrylamide GelMice, Inbred C57BLPregnancyRNA, MessengerProteinsDNAMice, Mutant StrainsSequence Analysis, DNADNA PrimersNuclear ProteinsPhosphorylationAbnormalities, MultipleBiological MarkersRecombinant Fusion ProteinsBone RegenerationBlotting, WesternPhylogenyMutagenesisMutation, MissenseDrosophila ProteinsBacterial ProteinsCell MembraneAdenosine TriphosphatasesAllelesProtein ConformationLiverEndocardial Cushion DefectsMice, TransgenicMutagenesis, Site-DirectedProtein TransportGene ExpressionDNA, BacterialInfant, NewbornAlkaline PhosphataseCell DifferentiationCrystallography, X-RaySpecies SpecificityImmunohistochemistryHomozygotePlasmidsMolecular WeightZebrafishGene Expression RegulationSyndromeGenotypeRNA, Ribosomal, 16SGenes, LethalMitochondriaHydrogen-Ion ConcentrationPolymerase Chain ReactionAmino Acid SubstitutionMorphogenesis