SyndromeMutation, MissenseMutationPoint MutationAndersen SyndromeLong QT SyndromeBarth SyndromeCraniosynostosesLEOPARD SyndromeNAV1.5 Voltage-Gated Sodium ChannelNoonan SyndromeMethyl-CpG-Binding Protein 2Sodium ChannelsAmino Acid SubstitutionReceptor, Fibroblast Growth Factor, Type 2Colorectal Neoplasms, Hereditary NonpolyposisMolecular Sequence DataFrameshift MutationAmino Acid SequencePhenotypeProtein Structure, TertiaryGerm-Line MutationPedigreeDown SyndromeMetabolic Syndrome XCell LineMutation RateBase SequenceHeterozygoteExonsDNA Mutational AnalysisNephrotic SyndromePolymerase Chain ReactionAllelesSjogren's SyndromeAbnormalities, MultipleGenotypePolymorphism, Single-Stranded ConformationalHomozygoteCodon, NonsenseGenes, RecessiveMutagenesis, Site-DirectedSequence Analysis, DNATurner SyndromeMutagenesisGenetic TestingMyelodysplastic SyndromesGenes, DominantSequence DeletionChromosome MappingCushing SyndromeDNA PrimersConsanguinityPolycystic Ovary SyndromeAcute Coronary SyndromeGene DeletionEscherichia coliDNA-Binding ProteinsWilliams SyndromeGenetic LinkageSuppression, GeneticGenetic Predisposition to DiseaseDiGeorge SyndromeSequence Homology, Amino AcidCodonTranscription FactorsModels, MolecularBinding SitesPrader-Willi SyndromeHemolytic-Uremic SyndromeHorner SyndromeDNAGenetic Complementation TestFounder EffectMembrane ProteinsProtein BindingCloning, MolecularIntellectual DisabilitySequence AlignmentGuillain-Barre SyndromeGenes, p53Ehlers-Danlos SyndromeFamily HealthNuclear ProteinsBrugada SyndromeTourette SyndromeMutant ProteinsCompartment SyndromesPolymorphism, GeneticHeterozygote DetectionAntiphospholipid SyndromeEye AbnormalitiesWerner SyndromeExomeModels, GeneticPorcine Reproductive and Respiratory SyndromeKlinefelter SyndromeSaccharomyces cerevisiaeTransfectionBloom Syndrome