title: [Frameshift mutations in the PQBP1 gene prevent its interaction with the splicing factor U5-15kD].
authors.forename: Mineyuki
authors.initials: M
authors.lastname: Mizuguchi
mesh_terms: D000818:Animals; D002352:Carrier Proteins / Q000235:genetics*; D004268:DNA-Binding Proteins; D016368:Frameshift Mutation / Q000235:genetics*; D005786:Gene Expression Regulation / Q000502:physiology; D006801:Humans; D009154:Mutation / Q000235:genetics*; D009687:Nuclear Proteins / Q000235:genetics*; D012326:RNA Splicing; D017415:Ribonucleoprotein, U5 Small Nuclear / Q000378:metabolism*
chemical_list: D002352:Carrier Proteins; D004268:DNA-Binding Proteins; D009687:Nuclear Proteins; C119246:PQBP1 protein, human; D017415:Ribonucleoprotein, U5 Small Nuclear; C506012:TXNL4A protein, human