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: | , , |
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Format: | Article |
Language: | English |
Published: |
Tehran University of Medical Sciences
2023-10-01
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Series: | Acta Medica Iranica |
Subjects: | |
Online Access: | https://acta.tums.ac.ir/index.php/acta/article/view/10473 |