Mutations in a novel retina-specific gene cause autosomal dominant retinitis pigmentosa

Nature Genetics

Volumn 22, Issue 3, 1999, Pages 255-259

  Sullivan, Lori S ^a   Heckenlively, John R ^b   Bowne, Sara J ^a   Zuo, Jian ^c   Hide, Winston A ^d   Gal, Andreas ^e   Denton, Michael ^f   Inglehearn, Chris F ^g   Blanton, Susan H ^h   Daiger, Stephen P ^a  

^a UNIVERSITY OF TEXAS MEDICAL SCHOOL   (United States)

^b JULES STEIN EYE INSTITUTE   (United States)

^c ST JUDE CHILDREN S RESEARCH HOSPITAL   (United States)

^d UNIVERSITY OF THE WESTERN CAPE   (South Africa)

^e UNIVERSITY MEDICAL CENTER HAMBURG EPPENDORF   (Germany)

^f UNIVERSITY OF OTAGO   (New Zealand)

^g UNIVERSITY OF LEEDS   (United Kingdom)

^h UNIVERSITY OF VIRGINIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ARGININE; GLUTAMINE;

AMINO TERMINAL SEQUENCE; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CHROMOSOME 8Q; CONTROLLED STUDY; GENE MUTATION; HETEROZYGOTE; HOMOZYGOTE; HUMAN; MOUSE; NONHUMAN; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; RETINITIS PIGMENTOSA;

ADULT; AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; CHILD; CHROMOSOMES, HUMAN, PAIR 8; EYE PROTEINS; FEMALE; GENES, DOMINANT; HETEROZYGOTE; HOMOZYGOTE; HUMANS; MALE; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; POLYMORPHISM, GENETIC; RETINA; RETINITIS PIGMENTOSA; SEQUENCE HOMOLOGY, AMINO ACID;

EID: 0032989251     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/10314     Document Type: Article

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