Homozygosity mapping in patients with cone-rod dystrophy: novel mutations and clinical characterizations
To determine the genetic defect and to describe the clinical characteristics in a cohort of mainly nonconsanguineous cone-rod dystrophy (CRD) patients.
Gespeichert in:
| Hauptverfasser: | , , , , , , , , , , , , , , , , , |
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| Dokumenttyp: | Article (Journal) |
| Sprache: | Englisch |
| Veröffentlicht: |
2010
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| In: |
Investigative ophthalmology & visual science
Year: 2010, Jahrgang: 51, Heft: 11, Pages: 5943-5951 |
| ISSN: | 1552-5783 |
| DOI: | 10.1167/iovs.10-5797 |
| Online-Zugang: | Resolving-System, lizenzpflichtig, Volltext: https://doi.org/10.1167/iovs.10-5797 Verlag, lizenzpflichtig, Volltext: https://iovs.arvojournals.org/article.aspx?articleid=2127110 
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| Verfasserangaben: | Karin W. Littink, Robert K. Koenekoop, L. Ingeborgh van den Born, Rob W.J. Collin, Luminita Moruz, Joris A. Veltman, Susanne Roosing, Marijke N. Zonneveld, Amer Omar, Mahshad Darvish, Irma Lopez, Hester Y. Kroes, Maria M. van Genderen, Carel B. Hoyng, Klaus Rohrschneider, Mary J. van Schooneveld, Frans P.M. Cremers, and Anneke I. den Hollander |
MARC
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