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retinitis pigmentosa (7) 7
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by Wu, Z and Zhong, M and Li, M and Huang, H and Liao, J and Lu, A and Guo, K and Ma, N and Lin, J and Duan, J and Liu, L and Xu, F and Zhong, Z and Chen, J
CURRENT MOLECULAR MEDICINE, ISSN 1566-5240, 2018, Volume 18, Issue 6, pp. 287 - 294
Background: To screen variants in pre-mRNA Splicing genes in 95 Chinese autosomal dominant retinitis pigmentosa (adRP) families. Methods: Clinical examination... 
MEDICINE, RESEARCH & EXPERIMENTAL | splicing factors | PENETRANCE | PROTEIN | Retinitis pigmentosa | variant | PRPF31 | PREVALENCE | SNRNP200 | PRPF8 | ASSOCIATION
Journal Article
Investigative ophthalmology & visual science, ISSN 0146-0404, 07/2019, Volume 60, Issue 8, pp. 2822 - 2835
To compare phenotype variability in retinitis pigmentosa patients with recessive and dominant mutations in the SNRNP200 gene. In a retrospective study,... 
genotype phenotype correlation | MISSENSE SUBSTITUTIONS | ISCEV STANDARD | MOLECULAR DIAGNOSIS | DYSTROPHY | FAMILIES | GENES | retinitis pigmentosa | OPHTHALMOLOGY | MUTATIONS | SNRNP200 | autosomal dominant | PROBANDS | autosomal recessive
Journal Article
by Wu, Z and Zhong, M and Li, M and Huang, H and Liao, J and Lu, A and Guo, K and Ma, N and Lin, J and Duan, J and Liu, L and Xu, F and Zhong, Z and Chen, J
Current Molecular Medicine, ISSN 1566-5240, 2018, Volume 18, Issue 5, pp. 287 - 294
Background: To screen variants in pre-mRNA Splicing genes in 95 Chinese autosomal dominant retinitis pigmentosa (adRP) families. Methods: Clinical examination... 
Variant | PRPF31 | SNRNP200 | Retinitis pigmentosa | PRPF8 | Splicing factors | MEDICINE, RESEARCH & EXPERIMENTAL | splicing factors | PENETRANCE | PROTEIN | variant | PREVALENCE | ASSOCIATION | Pathogens | Phenotypes | Splicing | Genes | mRNA | Gene sequencing | Proteins | Pathogenicity | Pedigree | Retinitis | Deoxyribonucleic acid--DNA
Journal Article
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 10/2012, Volume 109, Issue 43, pp. 17418 - 17423
Journal Article
Ophthalmic Genetics, ISSN 1381-6810, 01/2018, Volume 39, Issue 1, pp. 80 - 86
Purpose: To expand the genotype/phenotype correlations in patients with autosomal dominant retinitis pigmentosa (adRP) harboring PRPF8 variants. Materials and... 
retinitis pigmentosa | genotype/phenotype correlation | spliceosome | SNRNP200 | PRPF8 | BRR2 | DOMAIN | PROTEIN | ENVIRONMENT | LOCUS | PRP8 | SWISS-MODEL | FAMILIES | GENETICS & HEREDITY | OPHTHALMOLOGY | MUTATIONS | SPLICING-FACTOR GENES
Journal Article
Human Mutation, ISSN 1059-7794, 06/2011, Volume 32, Issue 6, pp. E2246 - E2258
Journal Article
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 10/2012, Volume 109, Issue 43, p. 17418
Journal Article
Eye (Basingstoke), ISSN 0950-222X, 2013, Volume 27, Issue 10, pp. 1204 - 1213
Journal Article
Journal Article
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