Article
The progressive rod-cone degeneration (PRCD) protein is secreted through the conventional ER/Golgi-dependent pathway.
Experimental eye research - 1 Aug 2014
Remez Lital, Zobor Ditta, Kohl Susanne, Ben-Yosef Tamar
Abstract excerpt
Retinitis pigmentosa (RP) is the most common form of hereditary retinal degeneration. Mutations of the PRCD gene are associated with RP in both dogs and humans. To date, four distinct PRCD mutations have been reported worldwide. Here we report the clinical phenotype of another patient with PRCD mutations, carrying the known p.R18X mutation and a novel missense mutation, p.P25T. This mutation affects a highly...
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