학술논문
Screening of a large cohort of leber congenital amaurosis and retinitis pigmentosa patients identifies novel lca5 mutations and new genotype-phenotype correlations
Document Type
Article
Author
Mackay, D.S.; Borman, A.D.; Ocaka, L.A.; Davidson, A.E.; Webster, A.R.; Moore, A.T.; Sui, R.; van den Born, L.I.; Berson, E.L.; Heckenlively, J.R.; Branham, K.; Ren, H.; Lopez, I.; Koenekoop, R.K.; Maria, M.; Azam, M.; Henkes, A.; Blokland, E.; Cremers, F.P.M.; Qamar, R.; Andreasson, S.; de Baere, E.; Bennett, J.; Chader, G.J.; Berger, W.; Golovleva, I.; Greenberg, J.; den Hollander, A.I.; Klevering, B.J.; Klaver, C.C.W.; Lorenz, B.; Preising, M.N.; Ramsear, R.; Roberts, L.; Roepman, R.; Rohrschneider, K.; Wissinger, B.
Source
In: Human Mutation . (Human Mutation, November 2013, 34(11):1537-1546)
Subject
Language
English
ISSN
10981004
10597794
10597794