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Myosin VIIa participates in opsin transport through the photoreceptor cilium.
J Neurosci. 1999 Aug 1;19(15):6267-74. doi: 10.1523/JNEUROSCI.19-15-06267.1999.
2
RPGR transcription studies in mouse and human tissues reveal a retina-specific isoform that is disrupted in a patient with X-linked retinitis pigmentosa.
Hum Mol Genet. 1999 Aug;8(8):1571-8. doi: 10.1093/hmg/8.8.1571.
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Identification of a 5' splice site mutation in the RPGR gene in a family with X-linked retinitis pigmentosa (RP3).
Hum Mutat. 1999;13(2):141-5. doi: 10.1002/(SICI)1098-1004(1999)13:2<141::AID-HUMU6>3.0.CO;2-Q.
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The retinitis pigmentosa GTPase regulator, RPGR, interacts with the delta subunit of rod cyclic GMP phosphodiesterase.
Proc Natl Acad Sci U S A. 1999 Feb 16;96(4):1315-20. doi: 10.1073/pnas.96.4.1315.
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Photoreceptor membrane proteins, phototransduction, and retinal degenerative diseases. The Friedenwald Lecture.
Invest Ophthalmol Vis Sci. 1998 Dec;39(13):2491-513.
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X-linked retinitis pigmentosa in two families with a missense mutation in the RPGR gene and putative change of glycine to valine at codon 60.
Ophthalmology. 1998 Dec;105(12):2286-96. doi: 10.1016/S0161-6420(98)91231-3.
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Phenotype of an X-linked retinitis pigmentosa family with a novel splice defect in the RPGR gene.
Invest Ophthalmol Vis Sci. 1998 Nov;39(12):2470-4.
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Effect of vitamin A supplementation on rhodopsin mutants threonine-17 --> methionine and proline-347 --> serine in transgenic mice and in cell cultures.
Proc Natl Acad Sci U S A. 1998 Sep 29;95(20):11933-8. doi: 10.1073/pnas.95.20.11933.
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Biochemical characterization and subcellular localization of the mouse retinitis pigmentosa GTPase regulator (mRpgr).
J Biol Chem. 1998 Jul 31;273(31):19656-63. doi: 10.1074/jbc.273.31.19656.
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Spectrum of mutations in the RPGR gene that are identified in 20% of families with X-linked retinitis pigmentosa.
Am J Hum Genet. 1997 Dec;61(6):1287-92. doi: 10.1086/301646.
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