Retinal Dystrophies Associated with Mutations in the <i>RP1</i> Gene: Genotype–Phenotype Correlations

Background: We evaluated the genetic and phenotypic features of a cohort of 10 Italian patients affected by Retinitis Pigmentosa (RP) associated with <i>RP1</i> sequence variants. Methods: A retrospective, cross-sectional genotype–phenotype correlation study was conducted on a cohort of ten Italian...

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Detalles Bibliográficos

Principais autores:	Vito Spagnuolo, Marco Piergentili, Ilaria Passerini, Vittoria Murro, Dario Pasquale Mucciolo, Dario Giorgio, Martina Maccari, Elisabetta Pelo, Ilaria Biagini, Fabrizio Giansanti, Gianni Virgili, Andrea Sodi
Formato:	Artigo
Idioma:	Inglês
Publicado:	MDPI AG 2025-03-01
Series:	Current Issues in Molecular Biology
Assuntos:	<i>RP1</i> gene inherited retinal dystrophies genotype phenotype retinitis pigmentosa
Acceso en liña:	https://www.mdpi.com/1467-3045/47/3/212
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