A novel homozygous frameshift variant in the cellular retinaldehyde-binding protein 1 (RLBP1) gene causes retinitis punctata albescens

Torres-Costa Sonia; Ferreira Carla Sofia; Grangeia AnaSantos-Silva RenatoBrandao EliseteEstrela-Silva SergioFalcao-Reis Fernando

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A novel homozygous frameshift variant in the cellular retinaldehyde-binding protein 1 (RLBP1) gene causes retinitis punctata albescens

机译：A novel homozygous frameshift variant in the cellular retinaldehyde-binding protein 1 (RLBP1) gene causes retinitis punctata albescens

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来源
《European journal of ophthalmology》 |2021年第3期|NP74-NP80|共7页
作者
Torres-Costa Sonia; Ferreira Carla Sofia; Grangeia AnaSantos-Silva RenatoBrandao EliseteEstrela-Silva SergioFalcao-Reis Fernando;
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作者单位

Sao Joao Hosp Univ Ctr, Dept Ophthalmol, Alameda Prof Hernani Monteiro, P-4200319 Porto, Portugal;

Sao Joao Hosp Univ Ctr Porto, Dept Genet, Porto, Portugal;

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正文语种英语
中图分类眼科学;
关键词
RLBP1 gene; retinitis punctata albescens; retinitis pigmentosa; rod-cone dystrophies; flecked retina spectrum;

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A novel homozygous frameshift variant in the cellular retinaldehyde-binding protein 1 (RLBP1) gene causes retinitis punctata albescens

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