Variabilities in retinal function and structure in a canine model of cone-rod dystrophy associated with RPGRIP1 support multigenic etiology

Defects in the cilia gene RPGRIP1 cause Leber congenital amaurosis and cone-rod dystrophy in humans. A form of canine cone-rod dystrophy (cord1) was originally associated with a homozygous insertion in RPGRIP1 (RPGRIP1 (ins/ins)) as the primary disease locus while a homozygous deletion in MAP9 (MAP9...

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Detalhes bibliográficos
Publicado no:Sci Rep
Main Authors: Das, Rueben G., Marinho, Felipe Pompeo, Iwabe, Simone, Santana, Evelyn, McDaid, Kendra Sierra, Aguirre, Gustavo D., Miyadera, Keiko
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group UK 2017
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5634483/
https://ncbi.nlm.nih.gov/pubmed/28993665
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41598-017-13112-w
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