| P2093 | author name string | Hui Wang | |
| | Liang Huang | |
| | Jing Xie | |
| | Lin Gan | |
| | Fang Hu | |
| | Cheng-Quan Hu | |
| | Lin-Lin Liu | |
| | Xiang-Yun Zeng | |
| | Yao-Ling Luo | |
| | Yi-Ping Jiang | |
| P2860 | cites work | Retinitis pigmentosa | Q21203028 |
| | Positional cloning of the gene for X-linked retinitis pigmentosa 2 | Q24322014 |
| | Localizing multiple X chromosome-linked retinitis pigmentosa loci using multilocus homogeneity tests | Q24559869 |
| | Mutation spectrum of the rhodopsin gene among patients with autosomal dominant retinitis pigmentosa | Q24560214 |
| | Rhodopsin mutations in autosomal dominant retinitis pigmentosa | Q24564252 |
| | A novel de novo frameshift mutation of RPGR ORF15 is associated with X-linked retinitis pigmentosa in a Chinese family. | Q51735876 |
| | Mutations in RPGR and RP2 of Chinese patients with X-linked retinitis pigmentosa. | Q54449556 |
| | Identification and characterization of a novel RPGR isoform in human retina | Q57737736 |
| | X-linked recessive retinitis pigmentosa. Clinical characteristics of carriers | Q69608946 |
| | Identification of two novel mutations (E332X and c1536delC) in the RPGR gene in two Chinese families with X-linked retinitis pigmentosa | Q73912681 |
| | A novel mutation of RPGR gene in an X-linked Chinese family with retinitis pigmentosa | Q83178191 |
| | Mutation spectrum and frequency of the RHO gene in 248 Chinese families with retinitis pigmentosa | Q85014358 |
| | A comprehensive mutation analysis of RP2 and RPGR in a North American cohort of families with X-linked retinitis pigmentosa | Q24612935 |
| | A map of human genome variation from population-scale sequencing | Q24617794 |
| | Fast and accurate short read alignment with Burrows-Wheeler transform | Q24653853 |
| | 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 |
| | 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 |
| | X-linked retinitis pigmentosa: mutation spectrum of the RPGR and RP2 genes and correlation with visual function | Q28143245 |
| | A gene (RPGR) with homology to the RCC1 guanine nucleotide exchange factor is mutated in X-linked retinitis pigmentosa (RP3) | Q28282762 |
| | RCC1-like domain and ORF15: essentials in RPGR gene | Q28284824 |
| | Interaction of retinitis pigmentosa GTPase regulator (RPGR) with RAB8A GTPase: implications for cilia dysfunction and photoreceptor degeneration | Q28287923 |
| | Positional cloning of the gene for X-linked retinitis pigmentosa 3: homology with the guanine-nucleotide-exchange factor RCC1 | Q28290670 |
| | ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data | Q29547161 |
| | Retinitis pigmentosa | Q29616538 |
| | Next-generation sequencing-based molecular diagnosis of a Chinese patient cohort with autosomal recessive retinitis pigmentosa | Q30540706 |
| | Prevalence and mode of inheritance of major genetic eye diseases in China. | Q33675903 |
| | Severe manifestations in carrier females in X linked retinitis pigmentosa | Q33679522 |
| | A novel mutation in retinitis pigmentosa GTPase regulator gene with a distinctive retinitis pigmentosa phenotype in a Chinese family | Q34081528 |
| | An integrative variant analysis suite for whole exome next-generation sequencing data | Q34125655 |
| | Mutations of RPGR in X-linked retinitis pigmentosa (RP3). | Q34610277 |
| | Rhodopsin mutations in Chinese patients with retinitis pigmentosa | Q35321232 |
| | Heterogeneity analysis in 40 X-linked retinitis pigmentosa families | Q35889226 |
| | RPGR-containing protein complexes in syndromic and non-syndromic retinal degeneration due to ciliary dysfunction | Q36299499 |
| | Next-generation genetic testing for retinitis pigmentosa | Q36375321 |
| | 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 | Q36683600 |
| | Comprehensive molecular diagnosis of 179 Leber congenital amaurosis and juvenile retinitis pigmentosa patients by targeted next generation sequencing | Q37598116 |
| | Retinitis pigmentosa. The Friedenwald Lecture | Q40896642 |
| | Multipoint linkage analysis and heterogeneity testing in 20 X-linked retinitis pigmentosa families. | Q41175581 |
| | Targeted high-throughput DNA sequencing for gene discovery in retinitis pigmentosa | Q42011199 |
| | Mutational hot spot within a new RPGR exon in X-linked retinitis pigmentosa | Q42631280 |
| | Next-generation sequencing (NGS) as a diagnostic tool for retinal degeneration reveals a much higher detection rate in early-onset disease | Q42961888 |
| | Dominant X linked retinitis pigmentosa is frequently accounted for by truncating mutations in exon ORF15 of the RPGR gene. | Q43074848 |
| | Novel deletion of the RPGR gene in a Chinese family with X-linked retinitis pigmentosa | Q43739577 |
| | Novel rhodopsin mutation in a Chinese family with autosomal dominant retinitis pigmentosa | Q44393491 |
| | A paradigm shift in the delivery of services for diagnosis of inherited retinal disease | Q45879073 |
| | RPGR mutation analysis and disease: an update | Q50459877 |
| | Epidemiology of retinitis pigmentosa in Denmark. | Q50570806 |
| P433 | issue | 5 | |
| P407 | language of work or name | English | Q1860 |
| P921 | main subject | retinitis pigmentosa | Q847057 |
| P304 | page(s) | 753-758 | |
| P577 | publication date | 2014-10-18 | |
| P1433 | published in | International Journal of Ophthalmology | Q26841911 |
| P1476 | title | Genetic analysis of Chinese families reveals a novel truncation allele of the retinitis pigmentosa GTPase regulator gene | |
| P478 | volume | 7 | |