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1. Mutations in RPE65 cause Leber's congenital amaurosis.

Author

Marlhens F, Bareil C, Griffoin JM, Zrenner E, Amalric P, Eliaou C, Liu SY, Harris E, Redmond TM, Arnaud B, Claustres M, and Hamel CP

Subjects
Adolescent, Adult, Base Sequence, Carrier Proteins, DNA genetics, DNA Mutational Analysis, DNA Primers genetics, Female, Humans, Male, Pedigree, Polymerase Chain Reaction, cis-trans-Isomerases, Blindness congenital, Blindness genetics, Eye Proteins genetics, Mutation, Optic Atrophies, Hereditary genetics, Proteins
Published
1997
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