Genetic analysis by whole exome sequencing (WES) in a patient with retinal disorder: A Case Study
Objective: Retinal hemangioblastoma is part of the symptoms of von Hippel-Lindau (VHL) syndrome, which occurs due to mutations in the VHL gene located on chromosome 3. This gene encodes a protein that plays important roles such as regulating the expression of oxygen-related genes, cilia formation, e...
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| Principais autores: | , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
University of Sistan and Baluchestan
2025-06-01
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| coleção: | Journal of Epigenetics |
| Assuntos: | |
| Acesso em linha: | https://jep.usb.ac.ir/article_9204_68182f9f927a0277bbe68b13eff36a31.pdf |
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