Variable phenotypic expressivity in a Swiss family with autosomal dominant retinitis pigmentosa due to a T494M mutation in the PRPF3 gene
2010
Abstract
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.
Details
Title
Variable phenotypic expressivity in a Swiss family with autosomal dominant retinitis pigmentosa due to a T494M mutation in the PRPF3 gene
Author(s)
Vaclavik, Veronika ; Gaillard, Marie-Claire ; Tiab, L. ; Schorderet, Daniel F. ; Munier, Francis L.
Published in
Molecular Vision
Volume
16
Pages
467-475
Date
2010
Keywords
Other identifier(s)
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Laboratories
SV
Record Appears in
Scientific production and competences > Unattributed publications > SV - SV - Unattributed publications
Scientific production and competences > SV - School of Life Sciences > SV - Unattributed publications
Peer-reviewed publications
Work produced at EPFL
Journal Articles
Published
Scientific production and competences > SV - School of Life Sciences > SV - Unattributed publications
Peer-reviewed publications
Work produced at EPFL
Journal Articles
Published
Record creation date
2011-12-16