Recessive mutations in SLC38A8 cause foveal hypoplasia and optic nerve misrouting without albinism

J.A. Poulter, M. Al-Araimi, I. Conte, M.M. Van Genderen, E. Sheridan, I.M. Carr, D.A. Parry, M. Shires, S. Carrella, J. Bradbury, K. Khan, P. Lakeman, P.I. Sergouniotis, A.R. Webster, A.T. Moore, B. Pal, M.D. Mohamed, A. Venkataramana, V. Ramprasad, R. ShettyM. Saktivel, G. Kumaramanickavel, A. Tan, David Mackey, Alex Hewitt, S. Banfi, M. Ali, C.F. Inglehearn, C. Toomes

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Biochemistry, Genetics and Molecular Biology