Identical mutation in a novel retinal gene causes progressive rod-cone degeneration in dogs and retinitis pigmentosa in humans

Genomics

Volumn 88, Issue 5, 2006, Pages 551-563

  Zangerl, Barbara ^a   Goldstein, Orly ^b   Philp, Alisdair R ^c   Lindauer, Sarah J P ^a   Pearce Kelling, Susan E ^b   Mullins, Robert F ^c   Graphodatsky, Alexander S ^d   Ripoll, Daniel ^b   Felix, Jeanette S ^e   Stone, Edwin M ^c,f   Acland, Gregory M ^b   Aguirre, Gustavo D ^a  

^a UNIVERSITY OF PENNSYLVANIA   (United States)

^b Department of Obstetrics Gynecology   (United States)

^c UNIVERSITY OF IOWA   (United States)

^d INSTITUTE OF CYTOLOGY AND GENETICS   (Russian Federation)

^e OptiGen   (United States)

^f HOWARD HUGHES MEDICAL INSTITUTE   (United States)

Author keywords

Disease models, animal; Dogs; Genetic diversity; Genetic linkage; Genetic markers; Genetic predisposition to disease; Genetic variation; Mutation; Retinal degeneration; Retinitis pigmentosa

Indexed keywords

AMINO ACID; COMPLEMENTARY DNA;

ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; BREED; CODON; CONTROLLED STUDY; DOG; EXON; FEMALE; GENE EXPRESSION; GENE IDENTIFICATION; GENE LIBRARY; GENE MUTATION; GENETIC CODE; HAPLOTYPE; HOMOZYGOSITY; HUMAN; MAJOR CLINICAL STUDY; MOLECULAR CLONING; MOUSE; NERVE CELL; NONHUMAN; NUCLEOTIDE SEQUENCE; PHENOTYPE; PHOTORECEPTOR; PIGMENT EPITHELIUM; PRIORITY JOURNAL; RETINA; RETINA CONE; RETINA DEGENERATION; RETINA ROD; RETINITIS PIGMENTOSA; SCREENING; SEQUENCE HOMOLOGY; VERTEBRATE;

AMINO ACID SEQUENCE; ANIMALS; BREEDING; CLONING, MOLECULAR; CONSERVED SEQUENCE; DNA MUTATIONAL ANALYSIS; DNA, COMPLEMENTARY; DOG DISEASES; DOGS; EXPRESSED SEQUENCE TAGS; EYE PROTEINS; FEMALE; GENE LIBRARY; GENES, RECESSIVE; GENOMICS; HOMOZYGOTE; HUMANS; MALE; MICE; MOLECULAR SEQUENCE DATA; PEDIGREE; POINT MUTATION; RETINAL DEGENERATION; RETINITIS PIGMENTOSA; SEQUENCE HOMOLOGY, AMINO ACID; SPECIES SPECIFICITY;

ANIMALIA; CANIS FAMILIARIS; VERTEBRATA;

EID: 33749430953     PISSN: 08887543     EISSN: 10898646     Source Type: Journal    
DOI: 10.1016/j.ygeno.2006.07.007     Document Type: Article

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