About: 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     Goto   Sponge   NotDistinct   Permalink

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Description
  • 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.
  • 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)
Title
  • 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 (en)
skos:prefLabel
  • 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 (en)
skos:notation
  • RIV/00064165:_____/10:7644!RIV11-MZ0-00064165
http://linked.open...avai/riv/aktivita
http://linked.open...avai/riv/aktivity
  • I, Z(MSM0021620806)
http://linked.open...iv/cisloPeriodika
  • 4
http://linked.open...vai/riv/dodaniDat
http://linked.open...aciTvurceVysledku
http://linked.open.../riv/druhVysledku
http://linked.open...iv/duvernostUdaju
http://linked.open...titaPredkladatele
http://linked.open...dnocenehoVysledku
  • 253089
http://linked.open...ai/riv/idVysledku
  • RIV/00064165:_____/10:7644
http://linked.open...riv/jazykVysledku
http://linked.open.../riv/klicovaSlova
  • 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)
http://linked.open.../riv/klicoveSlovo
http://linked.open...odStatuVydavatele
  • US - Spojené státy americké
http://linked.open...ontrolniKodProRIV
  • [BA4404E55EFA]
http://linked.open...i/riv/nazevZdroje
  • Human Mutation
http://linked.open...in/vavai/riv/obor
http://linked.open...ichTvurcuVysledku
http://linked.open...cetTvurcuVysledku
http://linked.open...UplatneniVysledku
http://linked.open...v/svazekPeriodika
  • 31
http://linked.open...iv/tvurceVysledku
  • Kožich, Viktor
  • Homolová, Kateřina
  • Zavaďáková, Petra
  • Andresen, Brage S.
  • Doktor, Thomas Koed
  • Schroeder, Lisbeth Dahl
http://linked.open...ain/vavai/riv/wos
  • 000276810600008
http://linked.open...n/vavai/riv/zamer
issn
  • 1059-7794
number of pages
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