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Spectrum of NPHP6/CEP290 mutations in Leber congenital amaurosis and delineation of the associated phenotype.

Academic Article
Publication Date:
2007
Iris type:
1.1 Articolo in rivista
Keywords:
non-syndromic LCA; cone-rod dystrophy LCA subtype; NPHP6; CEP290; mutational spectrum
List of contributors:
Perrault, I; Delphin, N; Hanein, S; Gerber, S; Dufier, Jl; Roche, O; Defoort Dhellemmes, S; Dollfus, H; Fazzi, ELISA MARIA; Munnich, A; Kaplan, J; Rozet, J. M.
Handle:
https://iris.unipv.it/handle/11571/34272
Published in:
HUMAN MUTATION
Journal
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