Molecular and Clinical Characterization of CNGA3 and CNGB3 Genes in Brazilian Patients Affected with Achromatopsia

Achromatopsia (ACHM) is a congenital cone photoreceptor disorder characterized by reduced visual acuity, nystagmus, photophobia, and very poor or absent color vision. Pathogenic variants in six genes encoding proteins composing the cone phototransduction cascade (CNGA3, CNGB3, PDE6C, PDE6H, GNAT2) a...

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Detalles Bibliográficos
Autores principales: Amaral, Rebeca A. S., Motta, Fabiana L., Zin, Olivia A., da Palma, Mariana M., Rodrigues, Gabriela D., Sallum, Juliana M. F.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Brief Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10298554/
https://www.ncbi.nlm.nih.gov/pubmed/37372476
http://dx.doi.org/10.3390/genes14061296

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10298554/
https://www.ncbi.nlm.nih.gov/pubmed/37372476
http://dx.doi.org/10.3390/genes14061296

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