Novel GUCY2D mutation causes phenotypic variability of Leber congenital amaurosis in a large kindred

Libe Gradstein, Jenny Zolotushko, Yuri V. Sergeev, Itay Lavy, Ginat Narkis, Yonatan Perez, Sarah Guigui, Dror Sharon

This is the first documentation of the p.Ala710Val mutation in GC1 and the second ever described mutation in its protein kinase domain. Our findings enlarge ...