A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies

Despite rapid advances in disease gene identification, the predictive power of the genotype remains limited, in part due to poorly understood effects of second-site modifiers. Here we demonstrate that a polymorphic coding variant of RPGRIP1L (retinitis pigmentosa GTPase regulator-interacting protein...

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Bibliografski detalji
Glavni autori: Khanna, Hemant, Davis, Erica E., Murga-Zamalloa, Carlos A., Estrada, Alejandro, Lopez, Irma, den Hollander, Anneke I., Zonneveld, Marijke N., Othman, Mohammad I., Waseem, Naushin, Chakarova, Christina F., Maubaret, Cecilia, Diaz-Font, Anna, MacDonald, Ian, Muzny, Donna M., Wheeler, David A., Morgan, Margaret, Lewis, Lora R., Logan, Clare V., Tan, Perciliz L., Beer, Michael A., Inglehearn, Chris F., Lewis, Richard A., Jacobson, Samuel G., Bergmann, Carsten, Beales, Philip L., Attié-Bitach, Tania, Johnson, Colin A., Otto, Edgar A., Bhattacharya, Shomi S., Hildebrandt, Friedhelm, Gibbs, Richard A., Koenekoop, Robert K., Swaroop, Anand, Katsanis, Nicholas
Format: Artigo
Jezik:Inglês
Izdano: 2009
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Article
Online pristup:https://ncbi.nlm.nih.gov/pmc/articles/PMC2783476/
https://ncbi.nlm.nih.gov/pubmed/19430481
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ng.366
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