Common Pathological Mutations in PQBP1 Induce Nonsense-Mediated mRNA Decay and Enhance Exclusion of the Mutant Exon

Luciana Musante, Stella-Amrei Kunde, Tina O. Sulistio, Ute Fischer, Astrid Grimme, Suzanna G. M. Frints, Charles E. Schwartz, Francisco Martinez, Carrado Romano, Hans-Hilger Ropers, Vera M. Kalscheuer*

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

Original languageEnglish
Pages (from-to)90-98
JournalHuman Mutation
Volume31
Issue number1
DOIs
Publication statusPublished - Jan 2010

Keywords

  • XLMR
  • PQBP1
  • splicing
  • PTC
  • NMD
  • NAS

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