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GCAP1 mutations associated with autosomal dominant cone dystrophy
We discuss the heterogeneity of autosomal dominant cone and cone-rod dystrophies (adCD, and adCORD, respectively). As one of the best characterized adCD genes, we focus on the GUCA1A gene encoding guanylate cyclase activating protein 1 (GCAP1), a protein carrying three high affinity Ca(2+) binding m...
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| Huvudupphovsmän: | , |
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| Materialtyp: | Artigo |
| Språk: | Inglês |
| Publicerad: |
2010
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| Ämnen: | |
| Länkar: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2857780/ https://ncbi.nlm.nih.gov/pubmed/20238026 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/978-1-4419-1399-9_31 |
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