Identification of a novel non-stop mutation in PDE6C gene in an Iranian family with Con-Rod Dystrophy

Identification of a novel non-stop mutation in PDE6C gene in an Iranian family with Con-Rod Dystrophy

Cone-rod dystrophy (CORD) is one of the most common genetic eye disorders. Recent genetic studies have demonstrated that it is a genetically heterogeneous disease among patients. Molecular genetic analysis of the 22 genes was performed in a family with Cone-rod dystrophy. Bioinformatics was applied...

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Bibliographic Details
Main Authors: Shahram Nasiri, Farah Talebi, Javad Mohammadi Asl, Farideh Ghanbari Mardasi
Format: Article
Language:English
Published: Tehran University of Medical Sciences 2020-08-01
Series:Acta Medica Iranica
Subjects:
Con-rod dystrophy (CORD)
Phosphodiesterase-6c (PDE6C) gene
Novel mutation
Next-generation sequencing
Non-stop mutation
Online Access:https://acta.tums.ac.ir/index.php/acta/article/view/8311

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