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

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

Cite this

Musante, L., Kunde, S-A., Sulistio, T. O., Fischer, U., Grimme, A., Frints, S. G. M., Schwartz, C. E., Martinez, F., Romano, C., Ropers, H-H., & Kalscheuer, V. M. (2010). Common Pathological Mutations in PQBP1 Induce Nonsense-Mediated mRNA Decay and Enhance Exclusion of the Mutant Exon. Human Mutation, 31(1), 90-98. https://doi.org/10.1002/humu.21146