. "Human Mutation" . "The study demonstrates by various methods that mutation c.903+469T>C activates a pseudoexon in the MTRR gene by increasing the affinity of an exon splicing enhancer for the SF2/ASF splicing factor." . "1"^^ . . "I, Z(MSM0021620806)" . "The Deep Intronic c.903+469T > C Mutation in the MTRR Gene Creates an SF2/ASF Binding Exonic Splicing Enhancer, Which Leads to Pseudoexon Activation and Causes the cbIE Type of Homocystinuria" . . . "The Deep Intronic c.903+469T > C Mutation in the MTRR Gene Creates an SF2/ASF Binding Exonic Splicing Enhancer, Which Leads to Pseudoexon Activation and Causes the cbIE Type of Homocystinuria" . . "31" . . . "The study demonstrates by various methods that mutation c.903+469T>C activates a pseudoexon in the MTRR gene by increasing the affinity of an exon splicing enhancer for the SF2/ASF splicing factor."@en . . . . . "Ko\u017Eich, Viktor" . "Doktor, Thomas Koed" . "[BA4404E55EFA]" . . "The Deep Intronic c.903+469T > C Mutation in the MTRR Gene Creates an SF2/ASF Binding Exonic Splicing Enhancer, Which Leads to Pseudoexon Activation and Causes the cbIE Type of Homocystinuria"@en . . "MTRR; ESE; SF2/ASF; Pre-mRNA splicing; cblE; homocystinuria; methionine synthase reductase; disease-causing mutations; comparative genomics; deficiency; expression; sequence; donor; disruption; prediction; resource"@en . . . . . . "000276810600008" . . "RIV/00064165:_____/10:7644" . . "Zava\u010F\u00E1kov\u00E1, Petra" . . "Andresen, Brage S." . "The Deep Intronic c.903+469T > C Mutation in the MTRR Gene Creates an SF2/ASF Binding Exonic Splicing Enhancer, Which Leads to Pseudoexon Activation and Causes the cbIE Type of Homocystinuria"@en . "1059-7794" . "RIV/00064165:_____/10:7644!RIV11-MZ0-00064165" . . . . . "6"^^ . "8"^^ . . . "US - Spojen\u00E9 st\u00E1ty americk\u00E9" . . "Schroeder, Lisbeth Dahl" . . "4" . "253089" . "Homolov\u00E1, Kate\u0159ina" .