EYS, encoding an ortholog of Drosophila spacemaker, is mutated in autosomal recessive retinitis pigmentosa.

EYS, encoding an ortholog of Drosophila spacemaker, is mutated in autosomal recessive retinitis pigmentosa.

Using a positional cloning approach supported by comparative genomics, we have identified a previously unreported gene, EYS, at the RP25 locus on chromosome 6q12 commonly mutated in autosomal recessive retinitis pigmentosa. Spanning over 2 Mb, this is the largest eye-specific gene identified so far....

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Bibliographic Details
Main Authors: El-Aziz, A, Barragan, I, O'Driscoll, C, Goodstadt, L, Prigmore, E, Borrego, S, Mena, M, Pieras, J, El-Ashry, M, Safieh, L, Shah, A, Cheetham, M, Carter, N, Chakarova, C, Ponting, C, Bhattacharya, S, Antinolo, G
Format: Journal article
Language:English
Published: 2008

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