Functional Analysis of Retinitis Pigmentosa 2 (RP2) Protein Reveals Variable Pathogenic Potential of Disease-Associated Missense Variants

por Patil, Suresh B., Hurd, Toby W., Ghosh, Amiya K., Murga-Zamalloa, Carlos A., Khanna, Hemant
Publicado 2011

Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy

por Otto, Edgar A., Hurd, Toby W., Airik, Rannar, Chaki, Moumita, Zhou, Weibin, Stoetzel, Corinne, Patil, Suresh B., Levy, Shawn, Ghosh, Amiya K., Murga-Zamalloa, Carlos A., van Reeuwijk, Jeroen, Letteboer, Stef J.F., Sang, Liyun, Giles, Rachel H., Liu, Qin, Coene, Karlien L. M., Estrada-Cuzcano, Alejandro, Collin, Rob W. J., McLaughlin, Heather M., Held, Susanne, Kasanuki, Jennifer M., Ramaswami, Gokul, Conte, Jinny, Lopez, Irma, Washburn, Joseph, MacDonald, James, Hu, Jinghua, Yamashita, Yukiko, Maher, Eamonn R., Guay-Woodford, Lisa, Neumann, Hartmut P.H., Obermüller, Nicholas, Koenekoop, Robert K., Bergmann, Carsten, Bei, Xiaoshu, Lewis, Richard A., Katsanis, Nicholas, Lopes, Vanda, Williams, David S., Lyons, Robert H., Dang, Chi V., Brito, Daniela A., Dias, Mónica Bettencourt, Zhang, Xinmin, Nürnberg, Gudrun, Nürnberg, Peter, Pierce, Eric, Jackson, Peter, Antignac, Corinne, Saunier, Sophie, Roepman, Ronald, Dollfus, Helene, Khanna, Hemant, Hildebrandt, Friedhelm
Publicado 2010