Genetic Diseases, InbornClone CellsMolecular Sequence DataMutationBase SequenceCloning, MolecularEugenicsGenetics, MedicalAmino Acid SequenceGenetic Diseases, Y-LinkedPhenotypeDNAChromosome MappingGenome, HumanPolymerase Chain ReactionRare DiseasesSequence Analysis, DNADiseaseCystic FibrosisGenetic TestingModels, GeneticCystic Fibrosis Transmembrane Conductance RegulatorGenetic Diseases, X-LinkedGenetic CounselingGenetic TherapyCell LineGenotypeDisease Models, AnimalDNA, ComplementaryJudaismCodon, NonsenseMetabolism, Inborn ErrorsGenetic VectorsRNA, MessengerGenetic VariationGenetic Predisposition to DiseasePrenatal DiagnosisPedigreeGenes, RecessiveAllelesExonsDNA Mutational AnalysisHuman Genome ProjectGenesNucleic Acid HybridizationProbability TheoryGenetic TechniquesMolecular BiologyNonsense Mediated mRNA DecayGene ExpressionSphingolipidosesGenetic MarkersPhylogenyTargeted Gene RepairSequence Homology, Nucleic AcidGenetic LinkagePolymorphism, Single NucleotideDNA PrimersSpecies SpecificityGene Transfer TechniquesSequence Homology, Amino AcidSequence AlignmentFanconi AnemiaChromosome DisordersBlotting, SouthernModels, BiologicalHeterozygoteTransfectionCells, CulturedGene Expression RegulationPoint MutationHeterozygote DetectionPreimplantation DiagnosisTay-Sachs DiseaseChromosomes, HumanTranscription, GeneticEvolution, MolecularTrinucleotide RepeatsPlasmidsMutation, MissenseMuscular Dystrophy, DuchenneTuberous SclerosisChromosome AberrationsDatabases, GeneticMice, Inbred C57BLMembrane ProteinsGenomeFactor IXPregnancySyndromeComputational BiologyDependovirusGene TargetingDogsLipid Metabolism DisordersProteinsDysautonomia, FamilialHemochromatosisPolymorphism, Restriction Fragment LengthHomozygote