New syndrome with retinitis pigmentosa is caused by nonsense mutations in retinol dehydrogenase RDH11

Retinitis pigmentosa (RP), a genetically heterogeneous group of retinopathies that occur in both non-syndromic and syndromic forms, is caused by mutations in ∼100 genes. Although recent advances in next-generation sequencing have aided in the discovery of novel RP genes, a number of the underlying c...

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Main Authors: Xie, Yajing (Angela), Lee, Winston, Cai, Carolyn, Gambin, Tomasz, Nõupuu, Kalev, Sujirakul, Tharikarn, Ayuso, Carmen, Jhangiani, Shalini, Muzny, Donna, Boerwinkle, Eric, Gibbs, Richard, Greenstein, Vivienne C., Lupski, James R., Tsang, Stephen H., Allikmets, Rando
Formato: Artigo
Idioma:Inglês
Publicado em: Oxford University Press 2014
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Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4189905/
https://ncbi.nlm.nih.gov/pubmed/24916380
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddu291
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