Mutations in RPE65 cause leber’s congenital amaurosis

Nature Genetics

Volumn 17, Issue 2, 1997, Pages 139-141

  Marlhens, Francpise ^a   Bareil, Corinne ^b   Griffoin, Jean Michel ^a   Zrenner, Eberhart ^c   Amalric, Pierre ^d   Eliaou, Claudie ^e   Liu, Su Yan ^f   Harris, Eddie ^f   Redmond, T Michael ^f   Arnaud, Bernard ^e   Claustres, Mireille ^b  

^a Hopital Saint Charles   (France)

^b Institute of Biology   (France)

^c UNIVERSITY HOSPITAL TÜBINGEN   (Germany)

^d Cabinet d Opthalmologie   (France)

^e GUI DE CHAULIAC HOSPITAL   (France)

^f NATIONAL EYE INSTITUTE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CARRIER PROTEIN; DNA; EYE PROTEIN; PRIMER DNA; PROTEIN; RPE65 PROTEIN, BOS TAURUS; RPE65 PROTEIN, HUMAN;

ADOLESCENT; ADULT; BLINDNESS; FEMALE; GENETICS; HEREDITARY OPTIC ATROPHY; HUMAN; LETTER; MALE; MUTATION; NUCLEOTIDE SEQUENCE; PEDIGREE; POLYMERASE CHAIN REACTION;

ADOLESCENT; ADULT; BASE SEQUENCE; BLINDNESS; CARRIER PROTEINS; DNA; DNA MUTATIONAL ANALYSIS; DNA PRIMERS; EYE PROTEINS; FEMALE; HUMANS; MALE; MUTATION; OPTIC ATROPHIES, HEREDITARY; PEDIGREE; POLYMERASE CHAIN REACTION; PROTEINS;

EID: 0031252434     PISSN: 10614036     EISSN: 15461718     Source Type: Journal    
DOI: 10.1038/ng1097-139     Document Type: Letter

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