A deep intronic mutation causes RAD50 deficiency through an unusual mechanism of distant exon activation

Affiliations

• ¹ Gynecology Research Unit, Hannover Medical School, Hannover, Germany.
• ² International Centre for Genetic Engineering and Biotechnology, Trieste, Italy.
• ³ Cancer Center, University Medical Center, Amsterdam, Netherlands.
• ⁴ Institute of Human Genetics, University of Würzburg, Würzburg, Germany.
• ⁵ Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, Netherlands.