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Leber congenital amaurosis: Comprehensive survey of the genetic heterogeneity, refinement of the clinical definition, and genotype-phenotype correlations as a strategy for molecular diagnosis
Hanein, Sylvain; Perrault, Isabelle; Gerber, Sylvie; Tanguy, Gaëlle; Barbet, Fabienne
; et al.
Human Mutation; Hoboken Vol. 23, Iss. 4, (Apr 2004): 306.
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