Associated Papers
Retinitis Punctata Albescens and RLBP1-Allied Phenotypes: Phenotype-Genotype Correlation and Natural History in the Aim of Gene Therapy.
Bocquet B et al.
Ophthalmology Science, 2021
FPGS relapse-specific mutations in relapsed childhood acute lymphoblastic leukemia.
Yu SL et al.
Scientific Reports, 2020
32694622 (PubMed )
Supplement: 41598_2020_69059_MOESM2_ESM.xlsx › PuiBALL_with_purity_4_pp
Genotype-phenotype correlations in Bothnia dystrophy caused by RLBP1 gene sequence variations.
Burstedt M et al.
Acta Ophthalmologica, 2013
Clinical features of a Japanese case with Bothnia dystrophy.
Nojima K et al.
Ophthalmic Genetics, 2012
Homozygous deletion related to Alu repeats in RLBP1 causes retinitis punctata albescens.
Humbert G et al.
Investigative Ophthalmology & Visual Science, 2006
Novel mutation in RLBP1 gene in a Japanese patient with retinitis punctata albescens.
Nakamura M et al.
American Journal of Ophthalmology, 2005
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