A deep intronic mutation causes RAD50 deficiency through an unusual mechanism of distant exon activation
This study identifies and characterizes a novel type of splicing mutation in RAD50 deficiency, a rare genetic disorder.
Authors
- Detlev Schindler (ORCID: https://orcid.org/0000-0003-2451-8165)
- Dhanya Ramachandran (ORCID: https://orcid.org/0000-0001-8139-7799)
- Kristine Bousset (ORCID: https://orcid.org/0000-0003-0783-4991)
- Thilo Dörk (ORCID: https://orcid.org/0000-0002-9458-0282)
- Najim Ameziane (ORCID: https://orcid.org/0000-0003-1932-7858)
- Stefano Donegà (ORCID: https://orcid.org/0000-0003-0669-1618)
- Ingrid M.B.H. van de Laar (ORCID: https://orcid.org/0000-0002-2523-1230)
- Miriam Poley-Gil
- Tabea Fleischhammer
Institutions
- University of Würzburg (DE)
- Erasmus MC (NL)
- Medizinische Hochschule Hannover (DE)
- Cancer Genomics Centre (NL)
- International Centre for Genetic Engineering and Biotechnology (IT)
- Erasmus University Rotterdam (NL)
Publication Details
- Journal
- Journal of Clinical Investigation
- Published
- 2024-12-12
- DOI
- https://doi.org/10.1172/jci178528
- Citations
- 1
- Primary Topic
- RNA and protein synthesis mechanisms
- Type
- article
- Field-Weighted Citation Impact
- 0.23