Related references
Note: Only part of the references are listed.Loss of RPGR glutamylation underlies the pathogenic mechanism of retinal dystrophy caused by TTLL5 mutations
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PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2016)
Mutations in the X-Linked Retinitis Pigmentosa Genes RPGR and RP2 Found in 8.5% of Families with a Provisional Diagnosis of Autosomal Dominant Retinitis Pigmentosa
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The retinitis pigmentosa-mutated RP2 protein exhibits exonuclease activity and translocates to the nucleus in response to DNA damage
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easyLINKAGE: a PERL script for easy and automated two-/multi-point linkage analyses
TH Lindner et al.
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RPGR isoforms in photoreceptor connecting cilia and the transitional zone of motile cilia
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INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2003)
RP2 and RPGR mutations and clinical correlations in patients with X-linked retinitis pigmentosa
D Sharon et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2003)
Localization in the human retina of the X-linked retinitis pigmentosa protein RP2, its homologue cofactor C and the RP2 interacting protein Arl3
C Grayson et al.
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X-linked recessive atrophic macular degeneration from RPGR mutation
R Ayyagari et al.
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A comprehensive mutation analysis of RP2 and RPGR in a north American cohort of families with x-linked retinitis pigmentosa
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Mutations in the RPGR gene cause X-linked cone dystrophy
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Complete exon-intron structure of the RPGR-interacting protein (RPGRIP1) gene allows the identification of mutations underlying Leber congenital amaurosis
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Identification of novel RP2 mutations in a subset of X-linked Retinitis Pigmentosa families and prediction of new domains
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Mutations in the N-terminus of the X-linked retinitis pigmentosa protein RP2 interfere with the normal targeting of the protein to the plasma membrane
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