RNA Splice SitesIntronsAlternative SplicingRNA SplicingExonsBase SequenceMolecular Sequence DataRNA PrecursorsRNA, MessengerProtein IsoformsMutationEnhancer Elements, GeneticRibonucleoprotein, U1 Small NuclearDNA Mutational AnalysisHeterogeneous-Nuclear Ribonucleoprotein Group F-HSpliceosomesAmino Acid SequenceTranscription, GeneticRNA-Binding ProteinsConserved SequenceRegulatory Sequences, Ribonucleic AcidPolymorphism, Single NucleotidePolymerase Chain ReactionRNA, Small NuclearSequence Analysis, DNACell LineReverse Transcriptase Polymerase Chain ReactionHeLa CellsGene Expression RegulationDNA PrimersAllelesPedigreeGenetic VariationDNA, ComplementaryPromoter Regions, GeneticSequence Homology, Nucleic AcidHeterogeneous-Nuclear Ribonucleoprotein Group A-BSequence DeletionCloning, MolecularRegulatory Sequences, Nucleic AcidTransfectionAlu ElementsNuclear ProteinsSequence AlignmentPolyadenylationModels, GeneticEvolution, MolecularSilencer Elements, TranscriptionalPoint MutationDNA, IntergenicBinding SitesHaplotypesCodon, NonsensePolypyrimidine Tract-Binding ProteinDNAHeterogeneous-Nuclear RibonucleoproteinsGenotypeRibonucleoproteins, Small NuclearGenome, Human3' Flanking RegionOrgan SpecificityPolymorphism, GeneticPolymorphism, Single-Stranded ConformationalRibonucleoprotein, U2 Small NuclearRNATranscription Factors5' Untranslated RegionsPhenotypeDNA-Binding ProteinsFrameshift Mutation3' Untranslated RegionsGenes, ReporterGene ComponentsNucleic Acid ConformationProtein BindingExpressed Sequence TagsRNA Processing, Post-TranscriptionalComputational BiologyChromosome MappingSequence Analysis, RNAConsensus SequenceRNA, UntranslatedMutation, MissenseGene ExpressionGenetic Predisposition to DiseaseCOS CellsOpen Reading FramesSurvival of Motor Neuron 2 ProteinOligoribonucleotides, AntisenseHeterozygoteTrans-SplicingRNA, Small Nucleolar5' Flanking RegionPlasmidsLinkage DisequilibriumGene FrequencySequence Homology, Amino AcidRepetitive Sequences, Nucleic AcidGenesProtein Structure, Tertiary