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Identification of novel mutations in X-linked retinitis pigmentosa families and implications for diagnostic testing.
Neidhardt J, Glaus E, Lorenz B, Netzer C, Li Y, Schambeck M, Wittmer M, Feil S, Kirschner-Schwabe R, Rosenberg T, Cremers FP, Bergen AA, Barthelmes D, Baraki H, Schmid F, Tanner G, Fleischhauer J, Orth U, Becker C, Wegscheider E, Nürnberg G, Nürnberg P, Bolz HJ, Gal A, Berger W. Neidhardt J, et al. Among authors: lorenz b. Mol Vis. 2008 Jun 6;14:1081-93. Mol Vis. 2008. PMID: 18552978 Free PMC article.
X-linked retinitis pigmentosa: RPGR mutations in most families with definite X linkage and clustering of mutations in a short sequence stretch of exon ORF15.
Bader I, Brandau O, Achatz H, Apfelstedt-Sylla E, Hergersberg M, Lorenz B, Wissinger B, Wittwer B, Rudolph G, Meindl A, Meitinger T. Bader I, et al. Among authors: lorenz b. Invest Ophthalmol Vis Sci. 2003 Apr;44(4):1458-63. doi: 10.1167/iovs.02-0605. Invest Ophthalmol Vis Sci. 2003. PMID: 12657579
484 results