Leber Congenital Amaurosis: Survey of the Genetic Heterogeneity, Refinement of the Clinical Definition and Phenotype-Genotype Correlations as a Strategy for Molecular Diagnosis
Author:
Hanein Sylvain,Perrault Isabelle,Gerber Sylvie,Tanguy Gaëlle,Rozet Jean-Michel,Kaplan Josseline
Reference8 articles.
1. Kaplan, J., Bonneau, D., Frezal, J., Munnich, A., Dufier, J.L., 1990, Clinical and genetic heterogeneity in retinitis pigmentosa. Hum Genet 86:635–42. 2. Perrault, I., Rozet, J.M., Ghazi, I., Leowski, C., Bonnemaison, M., Gerber, S., Ducroq, D., Cabot, A., Souied, E., Dufier, J.L., Munnich, A., Kaplan, J. 1999. Different functional outcome of retGC1 and RPE65 gene mutations in Leber congenital amaurosis. Am. J. Hum. Genet 64:1225–8. 3. 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, J.L., Munnich, A., Rozet, J.M., Kaplan, J., 2004, Leber congenital amaurosis: comprehensive survey of the genetic heterogeneity, refinement of the clinical definition, and genotype-phenotype correlations as a strategy for molecular diagnosis. Hum Mutat 23(4):306–17. 4. Perrault, I., Hanein, S., Gerber, S., Barbet, F., Ducroq, D., Dollfus, H., Hamel, C., Dufier, J.L., Munnich, A., Kaplan, J., Rozet, J.M., 2004, Retinal dehydrogenase 12 (RDH12) mutations in leber congenital amaurosis. Am J Hum Genet 75(4):639–46. 5. Perrault, I., Hanein, S., Gerber, S., Barbet, F., Dufier, J-L., Munnich, A., Rozet, J-M., Kaplan, J., 2003, Evidence of autosomal dominant Leber congenital amaurosis (LCA) underlain by a CRX heterozygote null allele. J Med Genet 40:E90.
Cited by
11 articles.
订阅此论文施引文献
订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献
|
|