Risultati della ricerca - Maria Apergi

Deep intronic mutation in OFD1, identified by targeted genomic next-generation sequencing, causes a severe form of X-linked retinitis pigmentosa (RP23) di Tom R. Webb, David A. Parfitt, J.C. Gardner, A. Martinez, Daniela Bevilacqua, Alice E. Davidson, Ilaria Zito, Dawn L. Thiselton, J. H. C. Ressa, Maria Apergi, N Schwarz, Naheed Kanuga, Michel Michaelides, Michael E. Cheetham, Michael B. Gorin, Alison J. Hardcastle