Loading...
research article
Variable phenotypic expressivity in a Swiss family with autosomal dominant retinitis pigmentosa due to a T494M mutation in the PRPF3 gene
2010
Purpose: To characterize the clinical, psychophysical, and electrophysiological phenotypes in a five-generation Swiss family with dominantly inherited retinitis pigmentosa caused by a T494M mutation in the Precursor mRNA-Processing factor 3 (PRPF3) gene, and to relate the phenotype to the underlying genetic mutation.
Type
research article
Web of Science ID
WOS:000279076200001
Authors
Vaclavik, Veronika
•
Gaillard, Marie-Claire
•
Tiab, L.
•
Schorderet, Daniel F.
•
Munier, Francis L.
Publication date
2010
Published in
Volume
16
Start page
467
End page
475
Peer reviewed
REVIEWED
EPFL units
Available on Infoscience
December 16, 2011
Use this identifier to reference this record