A G-- A transition creates a branch point sequence and activation of a cryptic exon, resulting in the hereditary disorder neurofibromatosis 2

Annelies de Klein, Peter Riegman, EK Bijlsma, A (Anneliek) Heldoorn, Manja Muijtjens, MA den Bakker, CJJ Avezaat, Ellen Zwarthoff

Research output: Contribution to journalArticleAcademicpeer-review

44 Citations (Scopus)
15 Downloads (Pure)
Original languageUndefined/Unknown
Pages (from-to)393-398
Number of pages6
JournalHuman Molecular Genetics
Volume7
Issue number3
DOIs
Publication statusPublished - 1998

Research programs

  • EMC MGC-01-12-03
  • EMC MM-03-24-02
  • EMC MM-03-44-06
  • EMC OR-01-60-01

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