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

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

Mellersh, C S; Boursnell, M E G; Pettitt, L; Ryder, E J; Holmes, N G; Grafham, D; Forman, O P; Sampson, J; Barnett, K C; Blanton, S; Binns, M M; Vaudin, M.

Affiliation

Mellersh CS; Animal Health Trust, Lanwades Park, Kentford, Newmarket, Suffolk CB8 7UU, UK. cathryn.mellersh@aht.org.uk

Genomics ; 88(3): 293-301, 2006 Sep.

Article in En | MEDLINE | ID: mdl-16806805

Subject(s)

Chromosomes, Human, Pair 14/genetics; Codon, Nonsense; Mutagenesis, Insertional; Optic Atrophy, Hereditary, Leber/genetics; Proteins/genetics; Animals; Child; Child, Preschool; Cytoskeletal Proteins; DNA Mutational Analysis; Disease Models, Animal; Dogs; Exons/genetics; Humans; Infant; Pedigree

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Collection: 01-internacional Database: MEDLINE Main subject: Chromosomes, Human, Pair 14 / Proteins / Mutagenesis, Insertional / Codon, Nonsense / Optic Atrophy, Hereditary, Leber Limits: Animals / Child / Child, preschool / Humans / Infant Language: En Journal: Genomics Journal subject: GENETICA Year: 2006 Document type: Article Country of publication: United States

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