Mutations in a human homologue of Drosophila crumbs cause retinitis pigmentosa (RP12)
β Scribed by Cremers, Frans P.M.; den Hollander, Anneke I.; ten Brink, Jacoline B.; de Kok, Yvette J.M.; van Soest, Simone; van den Born, L. Ingeborgh; van Driel, Marc A.; van de Pol, Dorien J.R.; Payne, Annette M.; Bhattacharya, Shomi S.; Kellner, Ulrich; Hoyng, Carel B.; Westerveld, Andries; Brunner, Han G.; Bleeker-Wagemakers, Elisabeth M.; Deutman, August F.; Heckenlively, John R.; Bergen, Arthur A.B.
- Book ID
- 109515968
- Publisher
- Nature Publishing Group
- Year
- 1999
- Tongue
- English
- Weight
- 561 KB
- Volume
- 23
- Category
- Article
- ISSN
- 1061-4036
- DOI
- 10.1038/13848
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X-linked Retinitis Pigmentosa (XLRP) shows a huge genetic heterogeneity with almost five distinct loci on the X chromosome. So far, only two XLRP genes have been identified, RPGR (or RP3) and RP2, being mutated in approximately 70% and 10% of the XLRP patients. Clinically there is no clearly signifi
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