Genes, RecessiveMolecular Sequence DataProtein SubunitsBase SequenceAmino Acid SequenceMutationGlycoprotein Hormones, alpha SubunitMacromolecular SubstancesConsanguinityPedigreeCloning, MolecularReceptors, NicotinicHomozygotePhenotypeChromosome MappingTranscription, GeneticRNA, MessengerPromoter Regions, GeneticSequence Homology, Amino AcidAllelesExonsFollicle Stimulating Hormone, beta SubunitDNA Mutational AnalysisGenetic LinkageGene Expression RegulationBinding SitesEscherichia coliCell LineDNAGene Expression Regulation, EnzymologicSequence AlignmentReceptors, GABA-ARestriction MappingGenesSodium-Potassium-Exchanging ATPaseProtein BindingPolymerase Chain ReactionGenotypeMutation, MissenseSyndromeDNA PrimersPyruvate Dehydrogenase (Lipoamide)IntronsProton-Translocating ATPasesDNA-Binding ProteinsTransfectionLuteinizing Hormone, beta SubunitPolycystic Kidney, Autosomal RecessiveHeterozygotePoint MutationGlutamate-Cysteine LigaseSequence Homology, Nucleic AcidRibulose-Bisphosphate CarboxylaseRecombinant ProteinsGenes, LethalSequence Analysis, DNASequence DeletionGenes, DominantKineticsSaccharomyces cerevisiaeDNA, ComplementaryProtein ConformationProtein Structure, TertiaryTranscription FactorsGene Expressionbeta-NaphthoflavoneRecombinant Fusion ProteinsVacuolar Proton-Translocating ATPasesFimbriae, BacterialCells, CulturedGenetic Complementation TestElectrophoresis, Polyacrylamide GelMolecular WeightHaplotypesPlasmidsMutagenesis, Site-DirectedReceptors, CholinergicGenes, BacterialBlotting, SouthernRegulatory Sequences, Nucleic AcidMutagenesisPhylogenyRetinitis PigmentosaGene DeletionMultigene FamilyGlobulinsGenetic MarkersVoltage-Gated Sodium Channel beta-3 SubunitChaperonin Containing TCP-1Models, MolecularPolymorphism, GeneticLod ScoreMultienzyme ComplexesModels, GeneticProtein Phosphatase 2Polymorphism, Single NucleotideReceptors, GlycineHeterotrimeric GTP-Binding ProteinsMembrane ProteinsBlotting, Western