Canine RPGRIP1 mutation establishes cone-rod dystrophy in miniature longhaired dachshunds as a homologue of human Leber congenital amaurosis

Genomics

Volumn 88, Issue 3, 2006, Pages 293-301

  Mellersh, C S ^a   Boursnell, M E G ^a   Pettitt, L ^a   Ryder, E J ^a   Holmes, N G ^a   Grafham, D ^b   Forman, O P ^a   Sampson, J ^c   Barnett, K C ^a   Blanton, S ^d   Binns, M M ^a   Vaudin, M ^a  

^a ANIMAL HEALTH TRUST   (United Kingdom)

^b WELLCOME TRUST SANGER INSTITUTE   (United Kingdom)

^c Kennel Club Piccadilly   (United Kingdom)

^d UNIVERSITY OF VIRGINIA   (United States)

Author keywords

Canine; Cone rod dystrophy; Leber congenital amaurosis; RPGRIP1

Indexed keywords

PROTEIN; RETINITIS PIGMENTOSA GTPASE REGULATOR INTERACTING PROTEIN 1; UNCLASSIFIED DRUG;

ANIMAL EXPERIMENT; ANIMAL MODEL; ARTICLE; CHROMOSOME 14Q; CONTROLLED STUDY; DOG; FRAMESHIFT MUTATION; GENE LOCUS; GENE MAPPING; GENE MUTATION; GENE SEQUENCE; GENETIC DISORDER; HETEROZYGOSITY; HOMOZYGOSITY; LEBER CONGENITAL AMAUROSIS; NONHUMAN; PEDIGREE; PRIORITY JOURNAL; RETINA CONE ROD DYSTROPHY; RETINA MALFORMATION; STOP CODON; VISUAL IMPAIRMENT;

ANIMALS; CHILD; CHILD, PRESCHOOL; CHROMOSOMES, HUMAN, PAIR 14; CODON, NONSENSE; DISEASE MODELS, ANIMAL; DNA MUTATIONAL ANALYSIS; DOGS; EXONS; HUMANS; INFANT; MUTAGENESIS, INSERTIONAL; OPTIC ATROPHY, HEREDITARY, LEBER; PEDIGREE; PROTEINS;

CANIS FAMILIARIS;

EID: 33748204582     PISSN: 08887543     EISSN: 10898646     Source Type: Journal    
DOI: 10.1016/j.ygeno.2006.05.004     Document Type: Article

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