Leber congenital amaurosis: comprehensive survey of the genetic heterogeneity, refinement of the clinical definition, and genotype-phenotype correlations as a strategy for molecular diagnosis

Verfasser / Beitragende:
[S. Hanein, I. Perrault, S. Gerber, G. Tanguy, F. Barbet, D. Ducroq, P. Calvas, H. Dollfus, C. Hamel, T. Lopponen, F. Munier, L. Santos, S. Shalev, D. Zafeiriou, J.L. Dufier, A. Munnich, J.M. Rozet, J. Kaplan]
Ort, Verlag, Jahr:
2004
Enthalten in:
Human Mutation, 23/4(2004), 306-317
Format:
Artikel (online)
ID: 439475872