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Novel mutations in the RS1 gene in Japanese patients with X-linked congenital retinoschisis
- Source :
- Human Genome Variation, Vol 6, Iss 1, Pp 1-6 (2019), Human Genome Variation
- Publication Year :
- 2019
- Publisher :
- Springer Science and Business Media LLC, 2019.
-
Abstract
- X-linked congenital retinoschisis (XLRS) is an inherited retinal disorder characterized by reduced central vision and schisis of the macula and peripheral retina. XLRS is caused by mutations in the RS1 gene. We have identified 37 different mutations in the RS1 gene, including 12 novel mutations, in 67 Japanese patients from 56 XLRS families. We present clinical features of these patients in relation to the associated mutations.
- Subjects :
- 0303 health sciences
medicine.medical_specialty
Retinal Disorder
lcsh:QH426-470
genetic structures
business.industry
030305 genetics & heredity
lcsh:Life
Peripheral retina
Biochemistry
eye diseases
lcsh:Genetics
lcsh:QH501-531
03 medical and health sciences
Congenital retinoschisis
Ophthalmology
Data Report
Genetics
Central vision
Medicine
business
Molecular Biology
Gene
030304 developmental biology
Subjects
Details
- ISSN :
- 2054345X
- Volume :
- 6
- Database :
- OpenAIRE
- Journal :
- Human Genome Variation
- Accession number :
- edsair.doi.dedup.....d019782e5165c55a55cc3f821519c4c6