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TÍTULO: Leber congenital amaurosis: Comprehensive survey of the genetic heterogeneity, refinement of the clinical definition, and genotype-phenotype correlations as a strategy for molecular diagnosis  Full Text
AUTORES: Hanein, S; Perrault, I; Gerber, S; Tanguy, G; Barbet, F; Ducroq, D; Calvas, P; Dollfus, H; Hamel, C; Lopponen, T; Munier, F; Santos, L; Shalev, S; Zafeiriou, D; Dufier, JL; Munnich, A; Rozet, JM; Kaplan, J;
PUBLICAÇÃO: 2004, FONTE: HUMAN MUTATION, VOLUME: 23, NÚMERO: 4
INDEXADO EM: Scopus WOS CrossRef