| scholarly article | Q13442814 |
| P50 | author | Ricardo Fujita | Q57384511 |
| P2093 | author name string | W Wu | |
| A Swaroop | |||
| L Gieser | |||
| M Abrahamson | |||
| P A Sieving | |||
| S G Jacobson | |||
| S Andréasson | |||
| P Forsythe | |||
| M Buraczynska | |||
| P2860 | cites work | A gene (SRPX) encoding a sushi-repeat-containing protein is deleted in patients with X-linked retinitis pigmentosa | Q24312152 |
| Localizing multiple X chromosome-linked retinitis pigmentosa loci using multilocus homogeneity tests | Q24559869 | ||
| X-linked dominant cone-rod degeneration: linkage mapping of a new locus for retinitis pigmentosa (RP 15) to Xp22.13-p22.11 | Q24672691 | ||
| Single-Step Method of RNA Isolation by Acid Guanidinium Thiocyanate–Phenol–Chloroform Extraction | Q25938986 | ||
| Close genetic linkage between X-linked retinitis pigmentosa and a restriction fragment length polymorphism identified by recombinant DNA probe L1.28 | Q28265989 | ||
| A gene (RPGR) with homology to the RCC1 guanine nucleotide exchange factor is mutated in X-linked retinitis pigmentosa (RP3) | Q28282762 | ||
| Positional cloning of the gene for X-linked retinitis pigmentosa 3: homology with the guanine-nucleotide-exchange factor RCC1 | Q28290670 | ||
| Mapping the RP2 locus for X-linked retinitis pigmentosa on proximal Xp: a genetically defined 5-cM critical region and exclusion of candidate genes by physical mapping | Q28297842 | ||
| Diagnostic issues with inherited retinal and macular dystrophies | Q33572032 | ||
| A recombination outside the BB deletion refines the location of the X linked retinitis pigmentosa locus RP3. | Q35882882 | ||
| Heterogeneity analysis in 40 X-linked retinitis pigmentosa families | Q35889226 | ||
| Scanning and competition between AGs are involved in 3' splice site selection in mammalian introns | Q36695561 | ||
| Identification of a gene disrupted by a microdeletion in a patient with X-linked retinitis pigmentosa (XLRP). | Q36815875 | ||
| The 5' and 3' splice sites come together via a three dimensional diffusion mechanism | Q39716206 | ||
| Multipoint linkage analysis and heterogeneity testing in 20 X-linked retinitis pigmentosa families. | Q41175581 | ||
| Defects in RNA splicing and the consequence of shortened translational reading frames | Q42590534 | ||
| Full-field electroretinogram in a patient with cutaneous melanoma-associated retinopathy | Q50116451 | ||
| Interocular asymmetry of visual function in heterozygotes of X-linked retinitis pigmentosa | Q57224278 | ||
| A two-step mechanism for 5' and 3' splice-site pairing | Q59095209 | ||
| Blindness and the X | Q60079628 | ||
| RNA Splice Site Selection: Evidence for a 5′ → 3′ Scanning Model | Q67299051 | ||
| Physical mapping at a potential X-linked retinitis pigmentosa locus (RP3) by pulsed-field gel electrophoresis | Q67821467 | ||
| Phenotypes in three Swedish families with X-linked retinitis pigmentosa caused by different mutations in the RPGR gene | Q73508644 | ||
| P433 | issue | 3 | |
| P407 | language of work or name | English | Q1860 |
| P921 | main subject | retinitis pigmentosa | Q847057 |
| P304 | page(s) | 571-580 | |
| P577 | publication date | 1997-09-01 | |
| P1433 | published in | American Journal of Human Genetics | Q4744249 |
| P1476 | title | Analysis of the RPGR gene in 11 pedigrees with the retinitis pigmentosa type 3 genotype: paucity of mutations in the coding region but splice defects in two families | |
| P478 | volume | 61 |
| Q24612935 | A comprehensive mutation analysis of RP2 and RPGR in a North American cohort of families with X-linked retinitis pigmentosa |
| Q24540164 | A fifth locus for Bardet-Biedl syndrome maps to chromosome 2q31 |
| Q34387798 | A novel locus (RP24) for X-linked retinitis pigmentosa maps to Xq26-27. |
| Q33999124 | Allelic heterogeneity and genetic modifier loci contribute to clinical variation in males with X-linked retinitis pigmentosa due to RPGR mutations |
| Q34102442 | Alternative splicing and retinal degeneration |
| Q77814533 | Clinical expression of X-linked retinitis pigmentosa in a Swedish family with the RP2 genotype |
| Q28210984 | Clinical studies of X-linked retinitis pigmentosa in three Swedish families with newly identified mutations in the RP2 and RPGR-ORF15 genes |
| Q56241301 | Comprehensive survey of mutations in RP2 and RPGR in patients affected with distinct retinal dystrophies: genotype–phenotype correlations and impact on genetic counseling |
| Q24540131 | Congenital end-plate acetylcholinesterase deficiency caused by a nonsense mutation and an A-->G splice-donor-site mutation at position +3 of the collagenlike-tail-subunit gene (COLQ): how does G at position +3 result in aberrant splicing? |
| Q34994553 | Gene therapeutic approach using mutation-adapted U1 snRNA to correct a RPGR splice defect in patient-derived cells |
| Q34390529 | Genetic analysis of Chinese families reveals a novel truncation allele of the retinitis pigmentosa GTPase regulator gene |
| Q34162216 | Identification of a locus on chromosome 2q11 at which recessive amelogenesis imperfecta and cone-rod dystrophy cosegregate |
| Q43235655 | Mapping a new genetic locus for X linked retinitis pigmentosa to Xq28. |
| Q42666151 | Microsatellite markers for the cone-rod retinal dystrophy gene, CRX, on 19q13.3. |
| Q28114957 | Multiprotein complexes of Retinitis Pigmentosa GTPase regulator (RPGR), a ciliary protein mutated in X-linked Retinitis Pigmentosa (XLRP). |
| Q36467228 | Mutations in RPGR and RP2 account for 15% of males with simplex retinal degenerative disease |
| Q54449556 | Mutations in RPGR and RP2 of Chinese patients with X-linked retinitis pigmentosa. |
| Q36683600 | 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 |
| Q28258792 | Mutations in the cone-rod homeobox gene are associated with the cone-rod dystrophy photoreceptor degeneration |
| Q34610277 | Mutations of RPGR in X-linked retinitis pigmentosa (RP3). |
| Q24540158 | Protein-truncation mutations in the RP2 gene in a North American cohort of families with X-linked retinitis pigmentosa |
| Q34144057 | Remapping of the RP15 locus for X-linked cone-rod degeneration to Xp11.4-p21.1, and identification of a de novo insertion in the RPGR exon ORF15 |
| Q46902104 | Reply to leder and hodge |
| Q36496174 | Retinitis Pigmentosa GTPase Regulator (RPGR) protein isoforms in mammalian retina: insights into X-linked Retinitis Pigmentosa and associated ciliopathies |
| Q33534644 | Retinitis pigmentosa: defined from a molecular point of view |
| Q44287764 | Sequence contexts that determine the pathogenicity of base substitutions at position +3 of donor splice-sites |
| Q28284385 | Short/branched-chain acyl-CoA dehydrogenase deficiency due to an IVS3+3A>G mutation that causes exon skipping |
| Q24313576 | Spectrum of mutations in the RPGR gene that are identified in 20% of families with X-linked retinitis pigmentosa |
| Q34455940 | TULP1 mutation in two extended Dominican kindreds with autosomal recessive retinitis pigmentosa. |
| Q28291575 | 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 |
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