| scholarly article | Q13442814 |
| P356 | DOI | 10.3109/02713680903395299 |
| P698 | PubMed publication ID | 20021257 |
| P2093 | author name string | Qingjiong Zhang | |
| Shiqiang Li | |||
| Xiangming Guo | |||
| Xueshan Xiao | |||
| Juan Wang | |||
| Yanli Ji | |||
| P2860 | cites work | Novel locus for X linked recessive high myopia maps to Xq23-q25 but outside MYP1. | Q43168499 |
| Novel deletion of the RPGR gene in a Chinese family with X-linked retinitis pigmentosa | Q43739577 | ||
| A single, abbreviated RPGR-ORF15 variant reconstitutes RPGR function in vivo | Q45238762 | ||
| RPGR ORF15 genotype and clinical variability of retinal degeneration in an Australian population. | Q46017622 | ||
| Genetics of retinitis pigmentosa: metabolic classification and phenotype/genotype correlations | Q46379155 | ||
| The retinitis pigmentosa-mutated RP2 protein exhibits exonuclease activity and translocates to the nucleus in response to DNA damage | Q47602742 | ||
| Identification of a polymorphism (D168N) in the XRP2 gene in Chinese | Q48370878 | ||
| RPGR mutation analysis and disease: an update | Q50459877 | ||
| Comprehensive survey of mutations in RP2 and RPGR in patients affected with distinct retinal dystrophies: genotype–phenotype correlations and impact on genetic counseling | Q56241301 | ||
| The retinitis pigmentosa 2 gene product is a GTPase-activating protein for Arf-like 3 | Q24315798 | ||
| Localization in the human retina of the X-linked retinitis pigmentosa protein RP2, its homologue cofactor C and the RP2 interacting protein Arl3 | Q24316031 | ||
| Positional cloning of the gene for X-linked retinitis pigmentosa 2 | Q24322014 | ||
| RP2 and RPGR mutations and clinical correlations in patients with X-linked retinitis pigmentosa | Q24532214 | ||
| RPGR-ORF15, which is mutated in retinitis pigmentosa, associates with SMC1, SMC3, and microtubule transport proteins | Q24533513 | ||
| Mutations in the RP2 gene cause disease in 10% of families with familial X-linked retinitis pigmentosa assessed in this study | Q24540229 | ||
| Localizing multiple X chromosome-linked retinitis pigmentosa loci using multilocus homogeneity tests | Q24559869 | ||
| A comprehensive mutation analysis of RP2 and RPGR in a North American cohort of families with X-linked retinitis pigmentosa | Q24612935 | ||
| In-frame deletion in a novel centrosomal/ciliary protein CEP290/NPHP6 perturbs its interaction with RPGR and results in early-onset retinal degeneration in the rd16 mouse | Q24671808 | ||
| 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 | Q24678278 | ||
| Crystal structure of the human retinitis pigmentosa 2 protein and its interaction with Arl3. | Q27919690 | ||
| RPGR transcription studies in mouse and human tissues reveal a retina-specific isoform that is disrupted in a patient with X-linked retinitis pigmentosa | Q28139362 | ||
| Genotype-phenotype correlation in X-linked retinitis pigmentosa 2 (RP2) | Q28145835 | ||
| X-linked retinitis pigmentosa: RPGR mutations in most families with definite X linkage and clustering of mutations in a short sequence stretch of exon ORF15 | Q28186363 | ||
| Mutations in the CACNA1F and NYX genes in British CSNBX families | Q28205386 | ||
| 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 | ||
| High-resolution imaging with adaptive optics in patients with inherited retinal degeneration | Q33288807 | ||
| De novo mutation in the RP1 gene (Arg677ter) associated with retinitis pigmentosa | Q34217308 | ||
| Difference between RP2 and RP3 phenotypes in X linked retinitis pigmentosa | Q35307467 | ||
| Focus on molecules: X-linked Retinitis Pigmentosa 2 protein, RP2. | Q36323274 | ||
| X-linked cone-rod dystrophy (locus COD1): identification of mutations in RPGR exon ORF15 | Q37216323 | ||
| Functional correlates of fundus autofluorescence abnormalities in patients with RPGR or RIMS1 mutations causing cone or cone rod dystrophy. | Q40160304 | ||
| Multipoint linkage analysis and heterogeneity testing in 20 X-linked retinitis pigmentosa families. | Q41175581 | ||
| Assay and functional analysis of the ARL3 effector RP2 involved in X-linked retinitis pigmentosa. | Q42168285 | ||
| Dominant, gain-of-function mutant produced by truncation of RPGR. | Q42616126 | ||
| A population-based epidemiological and genetic study of X-linked retinitis pigmentosa | Q42629977 | ||
| Mutational hot spot within a new RPGR exon in X-linked retinitis pigmentosa | Q42631280 | ||
| Discordant phenotypes in fraternal twins having an identical mutation in exon ORF15 of the RPGR gene | Q42647955 | ||
| Ten novel ORF15 mutations confirm mutational hot spot in the RPGR gene in European patients with X-linked retinitis pigmentosa | Q42686715 | ||
| P433 | issue | 1 | |
| P304 | page(s) | 73-79 | |
| P577 | publication date | 2010-01-01 | |
| P1433 | published in | Current Eye Research | Q5195042 |
| P1476 | title | Mutations in RPGR and RP2 of Chinese patients with X-linked retinitis pigmentosa. | |
| P478 | volume | 35 |
| Q98665176 | A novel mutation of the RPGR gene in a Chinese X-linked retinitis pigmentosa family and possible involvement of X-chromosome inactivation |
| Q34390529 | Genetic analysis of Chinese families reveals a novel truncation allele of the retinitis pigmentosa GTPase regulator gene |
| Q85014358 | Mutation spectrum and frequency of the RHO gene in 248 Chinese families with 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 |
| Q88098249 | Mutations of 60 known causative genes in 157 families with retinitis pigmentosa based on exome sequencing |
Search more.