Biallelic Mutation of ARHGEF18 , Involved in the Determination of Epithelial Apicobasal Polarity, Causes Adult-Onset Retinal Degeneration

Arno, Gavin; Carss, Keren J.; Hull, Sarah; Zihni, Ceniz; Robson, Anthony G.; Fiorentino, Alessia; Hardcastle, Alison J.; Holder, Graham E.; Cheetham, Michael E.; Plagnol, Vincent; Moore, Anthony T.; Raymond, F. Lucy; Matter, Karl; Balda, Maria S.; Webster, Andrew R.; Black, Graeme; Hall, Georgina; Ingram, Stuart; Gillespie, Rachel; Manson, Forbes; Sergouniotis, Panagiotis; Inglehearn, Chris; Toomes, Carmel; Ali, Manir; McKibbin, Martin; Poulter, James; Khan, Kamron; Lord, Emma; Nemeth, Andrea; Downes, Susan; Halford, Stephanie; Yu, Jing; Lise, Stefano; Arno, Gavin; Fiorentino, Alessia; Ponitkos, Nikos; Plagnol, Vincent; Michaelides, Michel; Hardcastle, Alison J.; Cheetham, Michael E.; Webster, Andrew R.; van Heyningen, Veronica

期刊名称The American Journal of Human Genetics
作者Arno, Gavin; Carss, Keren J.; Hull, Sarah; Zihni, Ceniz; Robson, Anthony G.; Fiorentino, Alessia; Hardcastle, Alison J.; Holder, Graham E.; Cheetham, Michael E.; Plagnol, Vincent; Moore, Anthony T.; Raymond, F. Lucy; Matter, Karl; Balda, Maria S.; Webster, Andrew R.; Black, Graeme; Hall, Georgina; Ingram, Stuart; Gillespie, Rachel; Manson, Forbes; Sergouniotis, Panagiotis; Inglehearn, Chris; Toomes, Carmel; Ali, Manir; McKibbin, Martin; Poulter, James; Khan, Kamron; Lord, Emma; Nemeth, Andrea; Downes, Susan; Halford, Stephanie; Yu, Jing; Lise, Stefano; Arno, Gavin; Fiorentino, Alessia; Ponitkos, Nikos; Plagnol, Vincent; Michaelides, Michel; Hardcastle, Alison J.; Cheetham, Michael E.; Webster, Andrew R.; van Heyningen, Veronica
卷第100卷
期第2期
印刷ISSN0002-9297
文件大小1703.36KB
发表时间2017-02
DOI10.1016/j.ajhg.2016.12.014
页码334-342

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Biallelic Mutation of ARHGEF18 , Involved in the Determination of Epithelial Apicobasal Polarity, Causes Adult-Onset Retinal Degeneration