Molecular and Clinical Characterization of <i>CNGA3</i> and <i>CNGB3</i> Genes in Brazilian Patients Affected with Achromatopsia

Molecular and Clinical Characterization of <i>CNGA3</i> and <i>CNGB3</i> 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 (<i>CNGA3</i>, <i>C...

Full description

Bibliographic Details
Main Authors: Rebeca A. S. Amaral, Fabiana L. Motta, Olivia A. Zin, Mariana M. da Palma, Gabriela D. Rodrigues, Juliana M. F. Sallum
Format: Article
Language:English
Published: MDPI AG 2023-06-01
Series:Genes
Subjects:
achromatopsia
cone photoreceptor
<i>CNGA3</i>
<i>CNGB3</i>
Online Access:https://www.mdpi.com/2073-4425/14/6/1296

Internet

https://www.mdpi.com/2073-4425/14/6/1296

Similar Items