Retinal Dystrophies Associated with Mutations in the RP1 Gene: Genotype-Phenotype Correlations.

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Title: Retinal Dystrophies Associated with Mutations in the RP1 Gene: Genotype-Phenotype Correlations.
Authors: Spagnuolo V; Eye Clinic, Department of Neuromuscular Diseases and Sense Organs, Careggi University Hospital, 50134 Florence, Italy.; Department of Neuroscience, Psychology, Pharmacology and Pediatrics (Neurofarba), University of Florence, 50134 Florence, Italy., Piergentili M; Eye Clinic, Department of Neuromuscular Diseases and Sense Organs, Careggi University Hospital, 50134 Florence, Italy.; Department of Neuroscience, Psychology, Pharmacology and Pediatrics (Neurofarba), University of Florence, 50134 Florence, Italy., Passerini I; Department of Genetic Diagnostics, Careggi University Hospital, 50134 Florence, Italy., Murro V; Eye Clinic, Department of Neuromuscular Diseases and Sense Organs, Careggi University Hospital, 50134 Florence, Italy.; Department of Neuroscience, Psychology, Pharmacology and Pediatrics (Neurofarba), University of Florence, 50134 Florence, Italy., Mucciolo DP; Eye Clinic, Department of Neuromuscular Diseases and Sense Organs, Careggi University Hospital, 50134 Florence, Italy.; Department of Neuroscience, Psychology, Pharmacology and Pediatrics (Neurofarba), University of Florence, 50134 Florence, Italy., Giorgio D; Eye Clinic, Department of Neuromuscular Diseases and Sense Organs, Careggi University Hospital, 50134 Florence, Italy.; Department of Neuroscience, Psychology, Pharmacology and Pediatrics (Neurofarba), University of Florence, 50134 Florence, Italy.; Department of Ophthalmology, Livorno Hospital, 57124 Livorno, Italy., Maccari M; Eye Clinic, Clinical Trial Center, Careggi University Hospital, 50134 Florence, Italy., Pelo E; Department of Genetic Diagnostics, Careggi University Hospital, 50134 Florence, Italy., Biagini I; Eye Clinic, Department of Neuromuscular Diseases and Sense Organs, Careggi University Hospital, 50134 Florence, Italy.; Department of Neuroscience, Psychology, Pharmacology and Pediatrics (Neurofarba), University of Florence, 50134 Florence, Italy., Giansanti F; Eye Clinic, Department of Neuromuscular Diseases and Sense Organs, Careggi University Hospital, 50134 Florence, Italy.; Department of Neuroscience, Psychology, Pharmacology and Pediatrics (Neurofarba), University of Florence, 50134 Florence, Italy., Virgili G; Eye Clinic, Department of Neuromuscular Diseases and Sense Organs, Careggi University Hospital, 50134 Florence, Italy.; Department of Neuroscience, Psychology, Pharmacology and Pediatrics (Neurofarba), University of Florence, 50134 Florence, Italy.; IRCCS-Fondazione Bietti, 00184 Rome, Italy., Sodi A; Eye Clinic, Department of Neuromuscular Diseases and Sense Organs, Careggi University Hospital, 50134 Florence, Italy.; Department of Neuroscience, Psychology, Pharmacology and Pediatrics (Neurofarba), University of Florence, 50134 Florence, Italy.
Source: Current issues in molecular biology [Curr Issues Mol Biol] 2025 Mar 20; Vol. 47 (3). Date of Electronic Publication: 2025 Mar 20.
Publication Type: Journal Article
Journal Info: Publisher: MDPI Country of Publication: Switzerland NLM ID: 100931761 Publication Model: Electronic Cited Medium: Internet ISSN: 1467-3045 (Electronic) Linking ISSN: 14673037 NLM ISO Abbreviation: Curr Issues Mol Biol Subsets: PubMed not MEDLINE
Database: MEDLINE Ultimate
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ISSN:1467-3045
DOI:10.3390/cimb47030212