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- W1571158498 abstract "It has been reported recently that mice carrying a disrupted Norrie disease gene produced alterations in the murine eye that are similar to congenital retinoschisis. Therefore, it was of interest to determine whether mutations in the Norrie disease gene can account for the disease in families with retinoschisis that do not carry mutations in the retinoschisis gene.The patient set comprised 5 cases of retinoschisis (1 familial and 4 sporadic), all unrelated to each other. Fundus examination of affected individuals showed foveal and peripheral schisis, and the visual acuity range was 20/40-20/60. Peripheral blood specimens were collected from affected and unaffected family members. DNA was extracted and amplified by polymerase chain reaction amplification of exons of the Norrie disease gene. The amplified products were sequenced by the dideoxy chain termination method.The data revealed no disease-specific sequence alterations in the Norrie disease gene.Although we cannot completely exclude the possibility of the Norrie disease gene as a candidate gene, the above results suggest that the structural and functional changes in the Norrie disease gene are not associated with clinically typical retinoschisis families that do not contain mutations in the coding regions and splice sites of the retinoschisis gene." @default.
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- W1571158498 date "2000-12-01" @default.
- W1571158498 modified "2023-09-23" @default.
- W1571158498 title "Lack of Association of the Norrie Disease Gene with Retinoschisis Phenotype" @default.
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- W1571158498 doi "https://doi.org/10.1016/s0021-5155(00)00288-4" @default.
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