Novel GUCY2D mutation causes phenotypic variability of Leber congenital amaurosis in a large kindred - Gradstein, Libe; Zolotushko, Jenny; Sergeev, Yuri V.; Lavy, Itay; Narkis, Ginat; Perez, Yonatan; Guigui, Sarah; Sharon, Dror; Banin, Eyal; Walter, Eyal; Lifshitz, Tova; Birk, Ohad S. (BMC medical genetics, 2016)
Keywords: Adult; Amino Acid Sequence; Animals; Biomedical and Life Sciences; Biomedicine; Catalytic Domain; Child; Child, Preschool; Clinical-Molecular Genetics and Cytogenetics; Cytogenetics; DNA - chemistry; DNA - isolation & purification; DNA - metabolism; DNA Mutational Analysis; Electroretinography; Eye - diagnostic imaging; Female; Gene Function; Gene mutations; Genes; Genetic aspects; Genotype; Guanylate Cyclase - chemistry; Guanylate Cyclase - genetics; Guanylate Cyclase - metabolism; Homozygote; Human Genetics; Humans; Kinases; Leber Congenital Amaurosis - genetics; Leber Congenital Amaurosis - pathology; Leber's congenital amaurosis; Male; Molecular Dynamics Simulation; Molecular Sequence Data; Mutation; Mutation, Missense; Pedigree; Phenotype; Physiological aspects; Polymorphism, Single Nucleotide; Receptors, Cell Surface - chemistry; Receptors, Cell Surface - genetics; Receptors, Cell Surface - metabolism; Research Article; Risk factors; Sequence Alignment; Studies; Visual Acuity; United States; Israel; Leber Congenital Amaurosis; Guanylate cyclase; Blindness; GUCY2D