Identification of Two Novel Mutations in ABCA4 Gene in a Patient With Stargardt Disease
Herein we investigated mutations in the ABCA4 gene in an Iranian patient with Stargardt disease using whole exome sequencing (WES). We evaluated genetic alterations in a 13-year-old Iranian girl with Stargardt disease and her family using WES. The target sequences for the proband and her parents we...
| Main Authors: | , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Tehran University of Medical Sciences
2023-10-01
|
| Series: | Acta Medica Iranica |
| Subjects: | |
| Online Access: | https://acta.tums.ac.ir/index.php/acta/article/view/10473 |