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
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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.

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