A Novel Ornithine Aminotransferase Splice Site Mutation Causes Vitamin B6-Responsive Gyrate Atrophy
Abstract Purpose: Gyrate atrophy of the choroid and retina (GACR) is a rare congenital disorder and mutations in the ornithine aminotransferase (OAT) gene has been specified as the underlying cause. Patients show a high level of ornithine in body fluids which may be controlled by low protein diets....
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| Principais autores: | , , , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado: |
Knowledge E
2024-03-01
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| Series: | Journal of Ophthalmic & Vision Research |
| Assuntos: | |
| Acceso en liña: | https://doi.org/10.18502/jovr.v19i1.15446 |
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