2014 Fiscal Year Final Research Report
Construction of a genomic analysis system of an ocular orphan disease.
| Project/Area Number |
24592654
|
|---|
| Research Category |
Grant-in-Aid for Scientific Research (C)
|
| Allocation Type | Multi-year Fund |
|---|
| Section | 一般 |
|---|
| Research Field |
Ophthalmology
|
|---|
| Research Institution | Juntendo University |
|---|
Principal Investigator |
|
|---|
| Co-Investigator(Kenkyū-buntansha) |
MURAKAMI Akira 順天堂大学, 医学部眼科学教室, 教授 (90157743)
|
|---|
| Project Period (FY) |
2012-04-01 – 2015-03-31
|
| Keywords | Genetics / Molecular genetics / Gene analysis / Orphan disease / Inherited eye disease / Sequencing / Micro Array / Mutation |
|---|
| Outline of Final Research Achievements |
Arai E, et al. Familial cases of Norrie disease detected by copy number analysis. JJO. 2014
Suzuki T, et al. A novel exon 17 deletion mutation of RPGRIP1 gene in two siblings with LCA. JJO. 2014
|
| Free Research Field |
Genetics
|
