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Oxford University Press

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Species-specific subcellular localization of RPGR and RPGRIP isoforms: implications for the phenotypic variability of congenital retinopathies among species

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Human Molecular Genetics, Vol. 11, Iss. 16, 2002-08 ,pp. : 1899-1907

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The Leber congenital amaurosis protein, AIPL1, is needed for the viability and functioning of cone photoreceptor cells

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Human Molecular Genetics, Vol. 19, Iss. 6, 2010-03 ,pp. : 1076-1087

Oxford University Press

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The Leber congenital amaurosis gene product AIPL1 is localized exclusively in rod photoreceptors of the adult human retina

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Gene therapy for retinitis pigmentosa and Leber congenital amaurosis caused by defects in AIPL1 : effective rescue of mouse models of partial and complete Aipl1 deficiency using AAV2/2 and AAV2/8 vectors

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