Genotypes and phenotypes of genes associated with achromatopsia: A reference for clinical genetic testing

PURPOSE: Achromatopsia is a congenital autosomal recessive cone disorder, and it has been found to be associated with six genes. However, pathogenic variants in these six genes have been identified in patients with various retinal dystrophies with the exception of achromatopsia. Thus, this study aim...

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Detalles Bibliográficos
Autores principales: Sun, Wenmin, Li, Shiqiang, Xiao, Xueshan, Wang, Panfeng, Zhang, Qingjiong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Molecular Vision 2020
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7479066/
https://www.ncbi.nlm.nih.gov/pubmed/32913385

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7479066/
https://www.ncbi.nlm.nih.gov/pubmed/32913385

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