Exclusion of RPGRIP1 ins44 from Primary Causal Association with Early-Onset Cone–Rod Dystrophy in Dogs

PURPOSE. Canine cone–rod dystrophy 1 (cord1) has been previously mapped to CFA15, and a homozygous 44-bp insertion in exon 2 (Ins44) of canine RPGRIP1 (cRPGRIP1(Ins/Ins)) has been associated with the disease. However, from the recent identification of a significant discordance in genotype–phenotype...

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Autori principali: Kuznetsova, Tatyana, Iwabe, Simone, Boesze-Battaglia, Kathleen, Pearce-Kelling, Sue, Chang-Min, Yim, McDaid, Kendra, Miyadera, Keiko, Komaromy, Andras, Aguirre, Gustavo D.
Natura: Artigo
Lingua:Inglês
Pubblicazione: The Association for Research in Vision and Ophthalmology 2012
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC3422103/
https://ncbi.nlm.nih.gov/pubmed/22807295
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1167/iovs.12-10178
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