|
|||||
|
|
Novel types of mutation in the choroideremia ( CHM) gene: a full-length L1 insertion and an intronic mutation activating a cryptic exon |
|
| Authors: | van den Hurk José A J M van de Pol Dorien J R Wissinger Bernd van Driel Marc A Hoefsloot Lies H de Wijs Ilse J van den Born L Ingeborgh Heckenlively John R Brunner Han G Zrenner Eberhart Ropers Hans-Hilger Cremers Frans P M |
| Affiliation: | (1) Department of Human Genetics, University Medical Center Nijmegen, P.O. Box 9101, 6500 HB Nijmegen, The Netherlands;(2) University Eye Hospital, Tübingen, Germany;(3) Center for Molecular and Biomolecular Informatics, University of Nijmegen, Nijmegen, The Netherlands;(4) The Rotterdam Eye Hospital, Rotterdam, The Netherlands;(5) Jules Stein Eye Institute, UCLA School of Medicine, Los Angeles, USA;(6) Max Planck Institute for Molecular Genetics, Berlin, Germany |
| Abstract: | |
| Keywords: | |
| 本文献已被 PubMed SpringerLink 等数据库收录！ | |