A novel rhodopsin point mutation, proline-170-histidine, associated with sectoral retinitis pigmentosa.

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

International Standard Serial Number (ISSN)

  • 1381-6810

Digital Object Identifier (DOI)

  • 10.3109/13816810.2014.924014

Language

  • eng