Phenotypic variation and genotype-phenotype discordance in canine cone-rod dystrophy with an RPGRIP1 mutation

PURPOSE: Previously, a 44 bp insertion in exon 2 of retinitis pigmentosa GTPase interacting protein 1 (RPGRIP1) was identified as the cause of cone-rod dystrophy 1 (cord1), a recessive form of progressive retinal atrophy (PRA) in the Miniature Longhaired Dachshund (MLHD), a dog model for Leber conge...

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Autores principales: Miyadera, Keiko, Kato, Kumiko, Aguirre-Hernández, Jesús, Tokuriki, Tsuyoshi, Morimoto, Kyohei, Busse, Claudia, Barnett, Keith, Holmes, Nigel, Ogawa, Hiroyuki, Sasaki, Nobuo, Mellersh, Cathryn S., Sargan, David R.
Formato: Artigo
Lenguaje:Inglês
Publicado: Molecular Vision 2009
Materias:
Research Article
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC2779058/
https://ncbi.nlm.nih.gov/pubmed/19936303
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