A novel rhodopsin point mutation, proline-170-histidine, associated with sectoral retinitis pigmentosa.
Journal Article (Journal Article)
Identification and classification of all retinitis pigmentosa (RP) causing mutations contribute to a better understanding of disease variants. In this report we describe a New Zealand family, of European heritage, affected by a sectoral type RP phenotype in association with a novel rhodopsin mutation (proline-170-histidine) in a highly conserved site.
Full Text
Duke Authors
Cited Authors
- Shah, SP; Wong, F; Sharp, DM; Vincent, AL
Published Date
- December 2014
Published In
Volume / Issue
- 35 / 4
Start / End Page
- 241 - 247
PubMed ID
- 24918165
Electronic International Standard Serial Number (EISSN)
- 1744-5094
Digital Object Identifier (DOI)
- 10.3109/13816810.2014.924014
Language
- eng
Conference Location
- England