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References from Retinitis Punctata Albescens and RLBP1-Allied Phenotypes. Local targets link to admitted publications; unresolved targets remain external evidence.
A novel RLBP1 gene geographical area-related mutation present in a young patient with retinitis punctata albescens
10.1186/s40246-017-0114-6 · 2017 · External reference
Bothnia dystrophy caused by mutations in the cellular retinaldehyde-binding protein gene (RLBP1) on chromosome 15q26
1999 · External reference
Newfoundland rod-cone dystrophy, an early-onset retinal dystrophy, is caused by splice-junction mutations in RLBP1
10.1086/339688 · 2002 · External reference
Mutation of the gene encoding cellular retinaldehyde-binding protein in autosomal recessive retinitis pigmentosa
10.1038/ng1097-198 · 1997 · External reference
CRALBP supports the mammalian retinal visual cycle and cone vision
10.1172/jci79651 · 2015 · External reference
Genotype-phenotype correlations in Bothnia dystrophy caused by RLBP1 gene sequence variations
10.1111/j.1755-3768.2012.02431.x · 2013 · External reference
Early-onset foveal involvement in retinitis punctata albescens with mutations in RLBP1
10.1001/jamaophthalmol.2013.4476 · 2013 · External reference
High-resolution homozygosity mapping is a powerful tool to detect novel mutations causative of autosomal recessive RP in the Dutch population
10.1167/iovs.10-6185 · 2011 · External reference
Increasing the yield in targeted next-generation sequencing by implicating CNV analysis, non-coding exons and the overall variant load: the example of retinal dystrophies
10.1371/journal.pone.0078496 · 2013 · External reference
Novel mutation in RLBP1 gene in a Japanese patient with retinitis punctata albescens
10.1016/j.ajo.2004.12.011 · 2005 · External reference
Mutations in RLBP1 associated with fundus albipunctatus in consanguineous Pakistani families
10.1136/bjo.2010.189076 · 2011 · External reference
A novel compound heterozygous mutation in the cellular retinaldehyde-binding protein gene (RLBP1) in a patient with retinitis punctata albescens
10.1016/j.ajo.2004.02.060 · 2004 · External reference
Novel mutations in the cellular retinaldehyde-binding protein gene (RLBP1) associated with retinitis punctata albescens: evidence of interfamilial genetic heterogeneity and fundus changes in heterozygotes
10.1001/archopht.122.1.70 · 2004 · External reference
Phenotype variations of retinal dystrophies caused by mutations in the RLBP1 gene
10.1111/aos.12573 · 2015 · External reference
Recessive mutations in the RLBP1 gene encoding cellular retinaldehyde-binding protein in a form of retinitis punctata albescens
1999 · External reference
A homozygous frameshift mutation in LRAT causes retinitis punctata albescens
10.1016/j.ophtha.2012.02.037 · 2012 · External reference
Mutation spectrum and genotype-phenotype correlation of inherited retinal dystrophy in Taiwan
10.1111/ceo.13708 · 2020 · External reference
Application of whole exome and targeted panel sequencing in the clinical molecular diagnosis of 319 Chinese families with inherited retinal dystrophy and comparison study
10.3390/genes9070360 · 2018 · External reference
Clinical heterogeneity in retinitis pigmentosa caused by variants in RP1 and RLBP1 in five extended consanguineous pedigrees
2020 · External reference
Genomic landscape of sporadic retinitis pigmentosa: findings from 877 Spanish cases
10.1016/j.ophtha.2019.03.018 · 2019 · External reference
Homozygosity mapping in autosomal recessive retinitis pigmentosa families detects novel mutations
2013 · External reference
A novel large homozygous deletion in the cellular retinaldehyde-binding protein gene (RLBP1) in a patient with retinitis punctata albescens
10.1097/icb.0000000000000628 · 2020 · External reference
Homozygous deletion related to Alu repeats in RLBP1 causes retinitis punctata albescens
10.1167/iovs.05-1488 · 2006 · External reference
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology
10.1038/gim.2015.30 · 2015 · External reference
@TOME-2: a new pipeline for comparative modeling of protein-ligand complexes
10.1093/nar/gkp368 · 2009 · External reference
A graph-theory algorithm for rapid protein side-chain prediction
10.1110/ps.03154503 · 2003 · External reference
Identification of CRALBP ligand interactions by photoaffinity labeling, hydrogen/deuterium exchange, and structural modeling
10.1074/jbc.m401960200 · 2004 · External reference
Nonsense-mediated mRNA decay: pathologies and the potential for novel therapeutics
10.3390/cancers12030765 · 2020 · External reference
Nonsense-mediated mRNA decay and cancer
10.1016/j.gde.2017.10.007 · 2018 · External reference
The manner of decay of genetically defective EYS gene transcripts in photoreceptor-directed fibroblasts derived from retinitis pigmentosa patients depends on the type of mutation
10.1186/s13287-018-1016-9 · 2018 · External reference
Bothnia dystrophy is caused by domino-like rearrangements in cellular retinaldehyde-binding protein mutant R234W
10.1073/pnas.0907454106 · 2009 · External reference
