Mutations in the RP1 gene causing autosomal dominant retinitis pigmentosa

Human Molecular Genetics

Volumn 8, Issue 11, 1999, Pages 2121-2128

  Bowne, Sara J ^a   Daiger, Stephen P ^a   Hims, Matthew M ^b   Sohocki, Melanie M ^a   Malone, Kimberly A ^a   McKie, Arthur B ^b   Heckenlively, John R ^c   Birch, David G ^d   Inglehearn, Chris F ^b   Bhattacharya, Shomi S ^e   Bird, Alan ^e   Sullivan, Lori S ^a  

^a UNIVERSITY OF TEXAS SCHOOL OF PUBLIC HEALTH   (United States)

^b UNIVERSITY OF LEEDS   (United Kingdom)

^c JULES STEIN EYE INSTITUTE   (United States)

^d RETINA FOUNDATION OF THE SOUTHWEST   (United States)

^e UNIVERSITY COLLEGE LONDON   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

MUTANT PROTEIN;

AMINO ACID SUBSTITUTION; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CHROMOSOME 8Q; FEMALE; FRAMESHIFT MUTATION; GENE; HUMAN; HUMAN CELL; MALE; MISSENSE MUTATION; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; RETINITIS PIGMENTOSA;

ADULT; AMINO ACID SUBSTITUTION; CHROMOSOMES, HUMAN, PAIR 8; DNA-BINDING PROTEINS; EXONS; EYE PROTEINS; FEMALE; GENES, DOMINANT; GENETIC SCREENING; HETERODUPLEX ANALYSIS; HUMANS; MALE; MOLECULAR SEQUENCE DATA; PEDIGREE; POINT MUTATION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; RETINITIS PIGMENTOSA; SEQUENCE DELETION; TERMINATOR REGIONS (GENETICS); TRANS-ACTIVATORS;

EID: 0032881729     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/8.11.2121     Document Type: Article

References (17)

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