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

Expanding the Clinical and Genetic Spectrum of <i>RAB28</i>-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 <i>RAB28</i> gene have been associated with autosomal recessive cone-rod dystrophies. Confirmed variants include splicin...

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Bibliographic Details
Main Authors: Giancarlo Iarossi, Valerio Marino, Paolo Enrico Maltese, Leonardo Colombo, Fabiana D’Esposito, Elena Manara, Kristjana Dhuli, Antonio Mattia Modarelli, Gilda Cennamo, Adriano Magli, Daniele Dell’Orco, Matteo Bertelli
Format: Article
Language:English
Published: MDPI AG 2021-12-01
Series:International Journal of Molecular Sciences
Subjects:
autosomal recessive cone-rod dystrophy
compound heterozygosis
GTPase
molecular dynamics
Online Access:https://www.mdpi.com/1422-0067/22/1/381

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https://www.mdpi.com/1422-0067/22/1/381

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