Expanding the Clinical and Genetic Spectrum of RAB28-Related Cone-Rod Dystrophy: Pathogenicity of Novel Variants in Italian Families

The small Ras-related GTPase Rab-28 is highly expressed in photoreceptor cells, where it possibly participates in membrane trafficking. To date, six alterations in the RAB28 gene have been associated with autosomal recessive cone-rod dystrophies. Confirmed variants include splicing variants, missens...

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Detalles Bibliográficos
Autores principales: Iarossi, Giancarlo, Marino, Valerio, Maltese, Paolo Enrico, Colombo, Leonardo, D’Esposito, Fabiana, Manara, Elena, Dhuli, Kristjana, Modarelli, Antonio Mattia, Cennamo, Gilda, Magli, Adriano, Dell’Orco, Daniele, Bertelli, Matteo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7795990/
https://www.ncbi.nlm.nih.gov/pubmed/33396523
http://dx.doi.org/10.3390/ijms22010381

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7795990/
https://www.ncbi.nlm.nih.gov/pubmed/33396523
http://dx.doi.org/10.3390/ijms22010381

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