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A novel heterozygous splice site OPA1 mutation causes exon 10 skipping in Japanese patients with dominant optic atrophy
- Source :
- Ophthalmic genetics. 37(3)
- Publication Year :
- 2016
-
Abstract
- Dominant optic atrophy (DOA) is the most common form of inherited optic neuropathy and characterized by slowly progressive visual loss, temporal pallor of optic discs, central visual field defects,...
- Subjects :
- 0301 basic medicine
Adult
Male
Pathology
medicine.medical_specialty
Heterozygote
Visual acuity
genetic structures
Visual Acuity
Pallor
GTP Phosphohydrolases
03 medical and health sciences
Exon
0302 clinical medicine
Atrophy
Inherited optic neuropathy
Asian People
Japan
Optic Atrophy, Autosomal Dominant
medicine
Humans
Child
Genetics (clinical)
business.industry
Heterozygote advantage
Exons
medicine.disease
eye diseases
Pedigree
Ophthalmology
030104 developmental biology
Child, Preschool
Pediatrics, Perinatology and Child Health
Mutation (genetic algorithm)
RNA splicing
Mutation
030221 ophthalmology & optometry
Female
sense organs
RNA Splice Sites
medicine.symptom
business
Tomography, Optical Coherence
Subjects
Details
- ISSN :
- 17445094
- Volume :
- 37
- Issue :
- 3
- Database :
- OpenAIRE
- Journal :
- Ophthalmic genetics
- Accession number :
- edsair.doi.dedup.....fe4d4f5a1d96b369b398b58e89e4f2c7