Article
A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies.
Nature genetics - 1 Jun 2009
Khanna Hemant, Davis Erica E, Murga-Zamalloa Carlos A, Estrada-Cuzcano 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
Abstract excerpt
Despite rapid advances in the identification of genes involved in disease, the predictive power of the genotype remains limited, in part owing to poorly understood effects of second-site modifiers. Here we demonstrate that a polymorphic coding variant of RPGRIP1L (retinitis pigmentosa GTPase regu...
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