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A Novel Mutation (I143NT) in Guanylate Cyclase-Activating Protein 1 (GCAP1) Associated with Autosomal Dominant Cone Degeneration

PURPOSE. To identify pathogenic mutations in the guanylate cyclase-activating protein 1 (GCAP1) and GCAP2 genes and to characterize the biochemical effect of mutation on guanylate cyclase (GC) stimulation. METHODS. The GCAP1 and GCAP2 genes were screened by direct sequencing for mutations in 216 pat...

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Detalhes bibliográficos
Main Authors: Nishiguchi, Koji M., Sokal, Izabela, Yang, Lili, Roychowdhury, Nirmalya, Palczewski, Krzysztof, Berson, Eliot L., Dryja, Thaddeus P., Baehr, Wolfgang
Formato: Artigo
Idioma:Inglês
Publicado em: 2004
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1475955/
https://ncbi.nlm.nih.gov/pubmed/15505030
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1167/iovs.04-0590
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