Associated Papers
Mutations of TOPORS identified in families with retinitis pigmentosa.
He K et al.
Ophthalmic Genetics, 2022
Autosomal Dominant Retinitis Pigmentosa-Associated TOPORS Protein Truncating Variants Are Exclusively Located in the Region of Amino Acid Residues 807 to 867.
Wang J et al.
Investigative Ophthalmology & Visual Science, 2022
35579903 (PubMed )
Supplement: iovs-63-5-19_s003.xlsx › Sheet1
A novel mutation in the dominantly inherited TOPORS gene supports haploinsufficiency as the mechanism of retinitis pigmentosa.
Latasiewicz M et al.
Ophthalmic Genetics, 2017
TOPORS, implicated in retinal degeneration, is a cilia-centrosomal protein.
Chakarova CF et al.
Human Molecular Genetics, 2011
Mutations in TOPORS: a rare cause of autosomal dominant retinitis pigmentosa in continental Europe?
Schob C et al.
Ophthalmic Genetics, 2009
Mutations in the TOPORS gene cause 1% of autosomal dominant retinitis pigmentosa.
Bowne SJ et al.
Molecular Vision, 2008
Select a paper to view details