A novel mutation (Cys83Tyr) in the second zinc finger of NR2E3 in enhanced S-cone syndrome.
Rocha-Sousa A, Hayashi T, Gomes NL, Penas S, Brandão E, Rocha P, Urashima M, Yamada H, Tsuneoka H, Falcão-Reis F.
Rocha-Sousa A, et al. Among authors: yamada h.
Graefes Arch Clin Exp Ophthalmol. 2011 Feb;249(2):201-8. doi: 10.1007/s00417-010-1482-y. Epub 2010 Aug 20.
Graefes Arch Clin Exp Ophthalmol. 2011.
PMID: 20725840