X-linked Retinitis Pigmentosa:RPGRMutations in Most Families with Definite X Linkage and Clustering of Mutations in a Short Sequence Stretch of Exon ORF15
Investigative Ophthalmology & Visual Science2003Vol. 44(4), pp. 1458–1458
Citations Over TimeTop 15% of 2003 papers
Ingrid Bader, Oliver Brandau, Helene Achatz, Eckart Apfelstedt-Sylla, Martin Hergersberg, Birgit Lorenz, Bernd Wissinger, Ba ̈rbel Wittwer, Gu ̈nther Rudolph, Alfons Meindl, Thomas Meitinger
Abstract
Mutations in the RPGR gene are estimated to cause 15% to 20% of all cases of RP, higher than any other single RP locus. This report provides a detailed strategy to analyze the mutational hot spot in RPGR exon ORF15, which cannot be screened by standard procedures. The discrepancy of the proportion of families linked to the RP3 locus and those having RPGR mutations is resolved in a subset of families with definite X linkage.
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