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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Detalhes bibliográficos
Main Authors: Abd El-Aziz, Mai M, Barragan, Isabel, O’Driscoll, Ciara A, Goodstadt, Leo, Prigmore, Elena, Borrego, Salud, Mena, Marcela, Pieras, Juan I, El-Ashry, Mohamed F, Safieh, Leen Abu, Shah, Amna, Cheetham, Michael E, Carter, Nigel P, Chakarova, Christina, Ponting, Chris P, Bhattacharya, Shomi S, Antinolo, Guillermo
Formato: Artigo
Idioma:Inglês
Publicado em: 2008
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2719291/
https://ncbi.nlm.nih.gov/pubmed/18836446
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ng.241
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