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...
Main Authors: | , , , , , , , , , , , |
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Format: | Article |
Language: | English |
Published: |
MDPI AG
2021-12-01
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Series: | International Journal of Molecular Sciences |
Subjects: | |
Online Access: | https://www.mdpi.com/1422-0067/22/1/381 |