José A. J. M. van den Hurk
Department of Human Genetics
University Medical Center Nijmegen
P.O. Box 9101
6500 HB
Netherlands
Name/email consistency: high
- Novel types of mutation in the choroideremia ( CHM) gene: a full-length L1 insertion and an intronic mutation activating a cryptic exon. van den Hurk, J.A., van de Pol, D.J., Wissinger, B., van Driel, M.A., Hoefsloot, L.H., de Wijs, I.J., van den Born, L.I., Heckenlively, J.R., Brunner, H.G., Zrenner, E., Ropers, H.H., Cremers, F.P. Hum. Genet. (2003)