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Different functional outcome of RetGC1 and RPE65 gene mutations in Leber congenital amaurosis.
C Leowski, S. Gerber, A Munnich, J L Dufier, I Perrault, Bonnie Kaplan, D Ducroq, J-M Rozet, R A Cabot, E Souied, M Bonnemaison, I Ghazi
1999-03-31
Blindness, congenital, genetics, physiopathology, Carrier Proteins, Chromosomes, Human, Pair 1, Consanguinity, Eye Proteins, Female, Genetic Linkage, Guanylate Cyclase, Humans, Infant, Infant, Newborn, Male, Mutation, Optic Atrophies, Hereditary, Pedigree, Phenotype, Polymorphism, Single-Stranded Conformational, Proteins, Receptors, Cell Surface, Retinal Cone Photoreceptor Cells, cis-trans-Isomerases
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Blindness,congenital,genetics,physiopathology,Carrier Proteins,Chromosomes, Human, Pair 1,Consanguinity,Eye Proteins,Female,Genetic Linkage,Guanylate Cyclase,Humans,Infant,Infant, Newborn,Male,Mutation,Optic Atrophies, Hereditary,Pedigree,Phenotype,Polymorphism, Single-Stranded Conformational,Proteins,Receptors, Cell Surface,Retinal Cone Photoreceptor Cells,cis-trans-Isomerases
Blindness, congenital, genetics, physiopathology, Carrier Proteins, Chromosomes, Human, Pair 1, Consanguinity, Eye Proteins, Female, Genetic Linkage, Guanylate Cyclase, Humans, Infant, Infant, Newborn, Male, Mutation, Optic Atrophies, Hereditary, Pedigree, Phenotype, Polymorphism, Single-Stranded Conformational, Proteins, Receptors, Cell Surface, Retinal Cone Photoreceptor Cells, cis-trans-Isomerases