A novel rhodopsin point mutation, proline-170-histidine, associated with sectoral retinitis pigmentosa.
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.
Shah, SP; Wong, F; Sharp, DM; Vincent, AL
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