Different Functional Outcome of RetGC1 and RPE65 Gene Mutations in Leber Congenital Amaurosis
| Autor: | Josseline Kaplan, Annick Cabot, Michèle Bonnemaison, Isabelle Perrault, Jean-Michel Rozet, Imad Ghazi, Jean-Louis Dufier, Corinne Leowski, Arnold Munnich, Eric Souied, Dominique Ducroq, Sylvie Gerber |
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| Rok vydání: | 1999 |
| Předmět: |
Male
cis-trans-Isomerases Letter Genetic Linkage Receptors Cell Surface Consanguinity Biology Gene mutation Blindness medicine.disease_cause Leber congenital amaurosis Optic Atrophies Hereditary Correlation genotype-phenotype Genetic linkage Congenital blindness Genetics medicine Humans Genetics(clinical) Eye Proteins Polymorphism Single-Stranded Conformational Genetics (clinical) Mutation RetGC1 mutations Infant Newborn Infant Proteins Phenotype Pedigree RPE65 Chromosomes Human Pair 1 Guanylate Cyclase RPE65 mutations Retinal Cone Photoreceptor Cells Female Carrier Proteins |
| Zdroj: | The American Journal of Human Genetics. 64:1225-1228 |
| ISSN: | 0002-9297 |
| DOI: | 10.1086/302335 |
| Databáze: | OpenAIRE |
| Externí odkaz: |
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