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Spectrum of Mutations in the RPGR Gene That Are Identified in 20% of Families with X- Linked Retinitis Pigmentosa  Monika Buraczynska, Weiping Wu, Ricardo.

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Presentation on theme: "Spectrum of Mutations in the RPGR Gene That Are Identified in 20% of Families with X- Linked Retinitis Pigmentosa  Monika Buraczynska, Weiping Wu, Ricardo."— Presentation transcript:

1 Spectrum of Mutations in the RPGR Gene That Are Identified in 20% of Families with X- Linked Retinitis Pigmentosa  Monika Buraczynska, Weiping Wu, Ricardo Fujita, Kinga Buraczynska, Ellen Phelps, Sten Andréasson, Jean Bennett, David G. Birch, Gerald A. Fishman, Dennis R. Hoffman, George Inana, Samuel G. Jacobson, Maria A. Musarella, Paul A. Sieving, Anand Swaroop  The American Journal of Human Genetics  Volume 61, Issue 6, Pages (December 1997) DOI: /301646 Copyright © 1997 The American Society of Human Genetics Terms and Conditions

2 Figure 1 A, Genomic sequence showing a 19-bp deletion in exon 11 of the RPGR gene in patient A567 (family XLRP-236). For comparison, the uninterrupted sequence in an unaffected individual is also shown. B, PCR-amplified products of RPGR exon 11, showing segregation of the 19-bp deletion in the XLRP-236 family. A smaller product is observed in two affected brothers (blackened squares) and their heterozygous mother (circle with a black dot), whereas the unaffected male sibling (unblackened square) shows the product of correct size. The American Journal of Human Genetics  , DOI: ( /301646) Copyright © 1997 The American Society of Human Genetics Terms and Conditions

3 Figure 2 Schematic diagram of the RPGR cDNA, showing distribution of mutations identified in this report and others (Meindl et al. 1996; Roepman et al. 1996). Putative functional domains in the RPGR protein are indicated. The number of observed mutations/total number of families studied is given in parentheses, next to the reference. The American Journal of Human Genetics  , DOI: ( /301646) Copyright © 1997 The American Society of Human Genetics Terms and Conditions

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