ExonsIntronsRNA SplicingAlternative SplicingBase SequenceMolecular Sequence DataRNA, MessengerMutationRNA Splice SitesSilencer Elements, TranscriptionalRegulatory Sequences, Ribonucleic AcidRNA PrecursorsEnhancer Elements, GeneticHeterogeneous-Nuclear Ribonucleoprotein Group F-HHeterogeneous-Nuclear Ribonucleoprotein Group A-BRNA-Binding ProteinsHeterogeneous-Nuclear RibonucleoproteinsPolymorphism, Single NucleotideSurvival of Motor Neuron 2 ProteinDNA Mutational AnalysisHeterogeneous-Nuclear Ribonucleoprotein LSequence Analysis, DNANuclear ProteinsExomeRibonucleoproteinsGenome, HumanHeLa CellsSurvival of Motor Neuron 1 ProteinGenetic Predisposition to DiseaseSpliceosomesEvolution, MolecularCodon, NonsensePedigreeMutation, MissenseModels, GeneticSMN Complex ProteinsRibonucleoprotein, U1 Small NuclearAllelesPoint MutationSequence DeletionMuscular Atrophy, SpinalChondroitinsulfatasesGenotypeGene SilencingGenetic VariationINDEL MutationBovine papillomavirus 1Polymerase Chain ReactionDatabases, Nucleic AcidFrameshift MutationComputational BiologyDNA Copy Number VariationsGene FrequencyConsensus SequenceHeterogeneous-Nuclear Ribonucleoprotein Group MOpen Reading FramesRegulatory Sequences, Nucleic AcidPolymorphism, GeneticCodonGene DuplicationSequence AlignmentRegulatory Elements, TranscriptionalRNALinkage DisequilibriumGenomeGenetic TestingBinding SitesRetinoschisisHaplotypesDNA PrimersTranscription, GeneticDystrophinSequence Analysis, RNASequence Homology, Nucleic AcidProtein IsoformsConserved SequenceCase-Control StudiesPhenotypeGenetic Association StudiesReverse Transcriptase Polymerase Chain ReactionBone Morphogenetic Protein Receptors, Type IIMutation RateAmino Acid Sequence3' Untranslated RegionsComparative Genomic Hybridization