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Progressive sector retinitis pigmentosa due to c.440G>T mutation in SAG in an Australian family
- Source :
- Ophthalmic Genetics. 42:62-70
- Publication Year :
- 2020
- Publisher :
- Informa UK Limited, 2020.
-
Abstract
- Heterozygous c.440 G > T mutation in the S-antigen visual arrestin (SAG) gene has been described as a cause of autosomal dominant retinitis pigmentosa (adRP) in a series of patients of Hispanic ori...
- Subjects :
- Genetics
congenital, hereditary, and neonatal diseases and abnormalities
genetic structures
Biology
medicine.disease
Autosomal dominant retinitis pigmentosa
eye diseases
Fundus autofluorescence
Ophthalmology
Pediatrics, Perinatology and Child Health
Retinitis pigmentosa
Mutation (genetic algorithm)
Arrestin
Rod-cone dystrophy
medicine
sense organs
Genetics (clinical)
Subjects
Details
- ISSN :
- 17445094 and 13816810
- Volume :
- 42
- Database :
- OpenAIRE
- Journal :
- Ophthalmic Genetics
- Accession number :
- edsair.doi...........0a677d1d5ba66ed7d8aaa39cd44e5346