A novel rhodopsin point mutation, proline-170-histidine, associated with sectoral retinitis pigmentosa.
Shaheen P
Shah
;
Fulton
Wong
;
Dianne M
Sharp
;
Andrea L
Vincent
;
(2014)
A novel rhodopsin point mutation, proline-170-histidine, associated with sectoral retinitis pigmentosa.
Ophthalmic genetics, 35 (4).
pp. 241-247.
ISSN 1381-6810
DOI: 10.3109/13816810.2014.924014
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.
Item Type | Article |
---|---|
ISI | 345213900006 |
Date Deposited | 21 Jan 2015 20:31 |