Genomic Landscape and Natural History of Sector Retinitis Pigmentosa

Introduction: Sector retinitis pigmentosa (sRP) is a rare, atypical, and milder variant of rod-cone degeneration. Despite historically associated with RHO gene, the mutational spectrum of sRP is evolving with multiple causative genes recently implicated. This study aimed to characterize the genotype...

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Detalhes bibliográficos
Autor principal: Cortinhal, Telmo (author)
Outros Autores: Geada, Sara (author), Neves, Emmanuel (author), Carvalho, Ana Luísa (author), Saraiva, Jorge (author), Silva, Rufino (author), Murta, Joaquim (author), Marques, João Pedro (author)
Formato: article
Idioma:eng
Publicado em: 2022
Assuntos:
Texto completo:https://doi.org/10.48560/rspo.25958
País:Portugal
Oai:oai:ojs.revistas.rcaap.pt:article/25958