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Paper Details

The first genetic landscape of inherited retinal dystrophies in Portuguese patients identifies recurrent homozygous mutations as a frequent cause of pathogenesis.
PNAS Nexus
6
2023
280 disease genes, IRD, IRD mutations, IRDs, Inherited retinal diseases, alleles, exons 13 and 14, inherited retinal dystrophies, patients
Author NameAffiliation
Mathieu QuinodozInstitute of Molecular and Clinical Ophthalmology Basel (IOB)
Mathieu QuinodozUniversity of Basel
Mathieu QuinodozUniversity of Leicester
Carlo RivoltaInstitute of Molecular and Clinical Ophthalmology Basel (IOB)
Carlo RivoltaUniversity of Basel
Carlo RivoltaUniversity of Leicester
Carlo RivoltaInstitute of Molecular and Clinical Ophthalmology Basel (IOB)
Carlo RivoltaUniversity of Basel
Carlo RivoltaUniversity of Leicester
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