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A novel GCAP1(N104K) mutation in EF hand 3 (EF3) linked to autosomal dominant cone dystrophy
The GUCA1A gene encodes a guanylate cyclase-activating protein (GCAP1) that is involved in regulation of phototransduction in the vertebrate retina. We discovered a novel C312A transversion in exon 2 of the human GUCA1A gene, replacing Asn-104 (N104) in GCAP1 with Lys (K), in two affected members of...
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| Main Authors: | , , , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2008
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2584361/ https://ncbi.nlm.nih.gov/pubmed/18706439 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.visres.2008.07.016 |
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