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

FAZZI, ELISA MARIA;
2007-01-01
2007
Neurosciences & Behavior covers cellular and molecular neuroscience, neuronal development, basic and clinical neurology, psychology, psychiatry, and psychopharmacology. This category also includes experimental and biobehavioral psychology, molecular psychiatry, and studies of neuronal function underlying higher cognitive processes. Resources dealing with cognitive or behavioral clinical psychotherapy, psychological assessments, and case-books in clinical neurology are excluded.
HUMAN MUTATION
sì
Sì, ma tipo non specificato
Inglese
Internazionale
STAMPA
28
4
416.
Tematica Ex SIR: Neuropsichiatria Infantile (Classif. Ex SIR:Articoli su riviste ISI )
non-syndromic LCA; cone-rod dystrophy LCA subtype; NPHP6; CEP290; mutational spectrum
12
info:eu-repo/semantics/article
262
Perrault, I; Delphin, N; Hanein, S; Gerber, S; Dufier, Jl; Roche, O; Defoort Dhellemmes, S; Dollfus, H; Fazzi, ELISA MARIA; Munnich, A; Kaplan, J; Roz...espandi
1 Contributo su Rivista::1.1 Articolo in rivista
none
1.1 Articolo in rivista
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11571/34272
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