| 1 | RDH5
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| A novel homozygous Gly107Arg mutation in the RDH5 gene in a Japanese patient with fundus albipunctatus with sectorial retinitis pigmentosa.
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| Sato M, Oshika T, Kaji Y, Nose H.
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| Ophthalmic Res 36(1):43-50. 2004
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| 2 | RDH5
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| A novel RDH5 gene mutation in a patient with fundus albipunctatus presenting with macular atrophy and fading white dots.
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| Yamamoto H, Yakushijin K, Kusuhara S, Escano MF, Nagai A, Negi A.
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| Am J Ophthalmol 136(3):572-4. 2003
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| 3 | RDH5
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| A high association with cone dystrophy in Fundus albipunctatus caused by mutations of the RDH5 gene.
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| Nakamura M, Hotta Y, Tanikawa A, Terasaki H, Miyake Y.
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| Invest Ophthalmol Vis Sci 41(12):3925-32. 2000
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| 4 | RDH5
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| Mutations in the gene encoding 11-cis retinol dehydrogenase cause delayed dark adaptation and fundus albipunctatus.
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| Yamamoto H, et al.
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| Nat Genet 22(2):188-91. 1999
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| 5 | RDH5
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| Intracellular localization and membrane topology of 11-cis retinol dehydrogenase in the retinal pigment epithelium suggest a compartmentalized synthesis of 11-cis retinaldehyde.
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| Simon A, Romert A, Gustafson AL, McCaffery JM, Eriksson U.
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| J Cell Sci 112 ( Pt 4):549-58. 1999
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| 6 | RDH5
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| 11-cis retinol dehydrogenase mutations as a major cause of the congenital night-blindness disorder known as fundus albipunctatus.
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| Gonzalez-Fernandez F, Kurz D, Bao Y, Newman S, Conway BP, Young JE, Han DP, Khani SC.
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| Mol Vis 5:41. 1999
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| 7 | RDH5
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| Primary structure of human 11-cis retinol dehydrogenase and organization and chromosomal localization of the corresponding gene.
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| Simon A, et al.
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| Genomics 36 : 424-430. 1996
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| 8 | RDH5
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| The retinal pigment epithelial-specific 11-cis retinol dehydrogenase belongs to the family of short chain alcohol dehydrogenases.
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| Simon A, Hellman U, Wernstedt C, Eriksson U.
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| J Biol Chem 270(3):1107-12. 1995
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