Novel RPGR mutations with distinct retinitis pigmentosa phenotypes in French-Canadian families
Author:
Publisher
Elsevier BV
Subject
Ophthalmology
Reference24 articles.
1. Daiger S. Retnet, 2003. URL: http://www. sph.uth.tmc.edu/RetNet
2. X-linked retinitis pigmentosa;Bird;Br J Ophthalmol,1975
3. A comprehensive mutation analysis of RP2 and RPGR in a North American cohort of families with X-linked retinitis pigmentosa;Breuer;Am J Hum Genet,2002
4. Mutations of RPGR in X-linked retinitis pigmentosa (RP3);Vervoort;Hum Mutat,2002
5. Mutational hot spot within a new RPGR exon in X-linked retinitis pigmentosa;Vervoort;Nat Genet,2000
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