Variable phenotypes of gyrate atrophy in siblings with a nonsense mutation in OAT gene
| Autor: | Saraswathi Karuvel Kannan, Ulaganathan Shanmugam, Renu P Rajan, Naresh Babu, Ayyasamy Vanniarajan, Sagnik Sen |
|---|---|
| Rok vydání: | 2021 |
| Předmět: |
0301 basic medicine
Genetics Sanger sequencing Progressive chorioretinal degeneration Nonsense mutation food and beverages 030105 genetics & heredity Biology medicine.disease Phenotype 03 medical and health sciences Ophthalmology symbols.namesake 0302 clinical medicine Gyrate atrophy Pediatrics Perinatology and Child Health Vitreous hemorrhage otorhinolaryngologic diseases 030221 ophthalmology & optometry symbols medicine Chorioretinal degeneration Gene Genetics (clinical) |
| Zdroj: | Ophthalmic Genetics. 42:300-303 |
| ISSN: | 1744-5094 1381-6810 |
| Popis: | Background: Gyrate Atrophy (GA) is a rare autosomal recessive disorder characterized by progressive chorioretinal degeneration. It is caused due to mutations in OAT gene that encodes a defective or... |
| Databáze: | OpenAIRE |
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