A novel rhodopsin point mutation, proline-170-histidine, associated with sectoral retinitis pigmentosa.
Publication
, Journal Article
Shah, SP; Wong, F; Sharp, DM; Vincent, AL
Published in: Ophthalmic Genet
December 2014
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.
Duke Scholars
Published In
Ophthalmic Genet
DOI
EISSN
1744-5094
Publication Date
December 2014
Volume
35
Issue
4
Start / End Page
241 / 247
Location
England
Related Subject Headings
- White People
- Visual Fields
- Visual Acuity
- Rhodopsin
- Retinitis Pigmentosa
- Proline
- Point Mutation
- Pedigree
- Ophthalmology & Optometry
- Male
Citation
APA
Chicago
ICMJE
MLA
NLM
Shah, S. P., Wong, F., Sharp, D. M., & Vincent, A. L. (2014). A novel rhodopsin point mutation, proline-170-histidine, associated with sectoral retinitis pigmentosa. Ophthalmic Genet, 35(4), 241–247. https://doi.org/10.3109/13816810.2014.924014
Shah, Shaheen P., Fulton Wong, Dianne M. Sharp, and Andrea L. Vincent. “A novel rhodopsin point mutation, proline-170-histidine, associated with sectoral retinitis pigmentosa.” Ophthalmic Genet 35, no. 4 (December 2014): 241–47. https://doi.org/10.3109/13816810.2014.924014.
Shah SP, Wong F, Sharp DM, Vincent AL. A novel rhodopsin point mutation, proline-170-histidine, associated with sectoral retinitis pigmentosa. Ophthalmic Genet. 2014 Dec;35(4):241–7.
Shah, Shaheen P., et al. “A novel rhodopsin point mutation, proline-170-histidine, associated with sectoral retinitis pigmentosa.” Ophthalmic Genet, vol. 35, no. 4, Dec. 2014, pp. 241–47. Pubmed, doi:10.3109/13816810.2014.924014.
Shah SP, Wong F, Sharp DM, Vincent AL. A novel rhodopsin point mutation, proline-170-histidine, associated with sectoral retinitis pigmentosa. Ophthalmic Genet. 2014 Dec;35(4):241–247.
Published In
Ophthalmic Genet
DOI
EISSN
1744-5094
Publication Date
December 2014
Volume
35
Issue
4
Start / End Page
241 / 247
Location
England
Related Subject Headings
- White People
- Visual Fields
- Visual Acuity
- Rhodopsin
- Retinitis Pigmentosa
- Proline
- Point Mutation
- Pedigree
- Ophthalmology & Optometry
- Male