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http://dx.doi.org/10.1093/hmg/ddy342 | DOI Listing |
Hum Mol Genet
January 2019
Neurobiology-Neurodegeneration & Repair Laboratory, National Eye Institute, National Institutes of Health, Bethesda, Maryland, MD, USA.
Hum Mol Genet
December 2016
Neurobiology-Neurodegeneration & Repair Laboratory, National Eye Institute, National Institutes of Health, Bethesda, Maryland, MD, USA.
Mutations in the ORF15 exon of the RPGR gene cause a common form of X-linked retinitis pigmentosa, which often results in severe loss of vision. In dogs and mice, gene augmentation therapy has been shown to arrest the progressive degeneration of rod and cone photoreceptors. However, the distribution of potentially treatable photoreceptors across the human retinas and the rate of degeneration are not known.
View Article and Find Full Text PDFJ Anat
September 2011
Division of Reproductive and Developmental Sciences, Genes and Development Group, University of Edinburgh, George Square, Edinburgh, UK.
The relative extent of cell mixing in tissues of mouse chimaeras or mosaics can be studied by comparing the distributions of the two cell populations in the tissues. However, the mean patch size is misleading because it is affected by both the extent of cell mixing and the relative contributions of the two cell populations. Previous work suggested that effects attributable to differences in tissue composition among chimaeras can be factored out either by correcting the mean patch size or by using the median patch size for the minority cell population and restricting the analysis to grossly unbalanced chimaeras.
View Article and Find Full Text PDFJ Thromb Haemost
March 2004
Department of Pediatrics, University of Iowa, Iowa City, IA, USA.
Hemophilia B is an X-linked bleeding disorder caused by the deficiency of coagulation factor (F)IX, with an estimated prevalence of 1 in 30 000 male births. It is almost exclusively seen in males with rare exceptions. We report a girl who was diagnosed with severe (<1%) FIX deficiency at 4 months of age.
View Article and Find Full Text PDF