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American Journal of Medical Genetics Part A, ISSN 1552-4825, 02/2019, Volume 179, Issue 2, pp. 312 - 316
Mutations in the gene SCAPER ( S ‐phase C yclinA A ssociated P rotein residing in the E ndoplasmic R eticulum) have recently been identified as causing... 
retinitis pigmentosa | syndromic disorder | SCAPER | autosomal recessive | PROTEIN | GENES | GENETICS & HEREDITY | MUTATIONS | Medical students | Retinitis pigmentosa | Attention deficit disorder | Intellectual disabilities | Hyperactivity | Attention deficit hyperactivity disorder | Retinitis | Mutation | Endoplasmic reticulum | Genetic screening
Journal Article
ORPHANET JOURNAL OF RARE DISEASES, ISSN 1750-1172, 08/2019, Volume 14, Issue 1, pp. 187 - 187
BackgroundTo evaluate and compare the progression of ciliopathy and non-ciliopathy autosomal recessive Retinitis Pigmentosa patients (arRP) by measuring the... 
MEDICINE, RESEARCH & EXPERIMENTAL | Retinitis pigmentosa | FUNDUS AUTOFLUORESCENCE | Disease progression | AXONEMES | CILIA | RPGR | Ciliopathy | HYPERAUTOFLUORESCENT RING | Autosomal recessive | GENE | DISEASE | GENETICS & HEREDITY | Development and progression | Comparative analysis | Structure | Cilia and ciliary motion | Index Medicus
Journal Article
Ophthalmic Genetics, ISSN 1381-6810, 09/2018, Volume 39, Issue 5, pp. 610 - 614
Journal Article
by Guo, XX and Li, J and Wang, QW and Shu, Y and Wang, J and Chen, LJ and Zhang, HB and Shi, Y and Yang, JY and Lu, F and Jiang, L and Qu, C and Gong, B
MOLECULAR MEDICINE REPORTS, ISSN 1791-2997, 09/2019, Volume 20, Issue 3, pp. 2922 - 2928
Journal Article
Scientific Reports, ISSN 2045-2322, 10/2016, Volume 6, Issue 1, pp. 35370 - 35370
Journal Article
PLoS ONE, ISSN 1932-6203, 12/2012, Volume 7, Issue 12, pp. e51566 - e51566
Journal Article
Journal Article
Journal Article
by Wang, M and Gan, DK and Huang, X and Xu, GZ
BMC OPHTHALMOLOGY, ISSN 1471-2415, 07/2016, Volume 16
Background: About 37 genes have been reported to be involved in autosomal recessive retinitis pigmentosa, a hereditary retinal disease. However, causative... 
Autosomal recessive retinitis pigmentosa | ALPHA-SUBUNIT | Targeted exome sequencing | GENES | CNGA1 | OPHTHALMOLOGY | DOMINANT | PERIPHERIN/RDS | PREVALENCE | CGMP-GATED CHANNEL | IDENTIFICATION
Journal Article
Egyptian Journal of Medical Human Genetics, ISSN 1110-8630, 10/2015, Volume 16, Issue 4, pp. 355 - 359
Retinitis pigmentosa (RP) is a clinically and genetically heterogeneous group of inherited retinal degenerations that is estimated to affect more than 1.5... 
Autosomal recessive retinitis pigmentosa | Autosomal dominant retinitis pigmentosa | Genetic counseling | Retinitis pigmentosa | Electroretinogram | Rhodopsin mutations
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 07/2011
Among inherited retinal dystrophies, autosomal recessive retinitis pigmentosa (arRP) is the most genetically heterogenous condition with 32 genes currently... 
Journal Article