Absence of NR2E1 mutations in patients with aniridia
Research output: Contribution to journal › Journal article › Research › peer-review
Nuclear receptor 2E1 (NR2E1) is a transcription factor with many roles during eye development and thus may be responsible for the occurrence of certain congenital eye disorders in humans. To test this hypothesis, we screened NR2E1 for candidate mutations in patients with aniridia and other congenital ocular malformations (anterior segment dysgenesis, congenital optic nerve malformation, and microphthalmia).
| Original language | English |
|---|---|
| Journal | Molecular Vision |
| Volume | 18 |
| Pages (from-to) | 2770-82 |
| Number of pages | 13 |
| ISSN | 1090-0535 |
| Publication status | Published - 2012 |
- 3' Untranslated Regions, 5' Untranslated Regions, Adult, Aniridia, Case-Control Studies, Child, Child, Preschool, DNA Mutational Analysis, Eye Abnormalities, Eye Proteins, Female, Genetic Testing, Humans, Male, Microphthalmos, Mutation, Open Reading Frames, Optic Nerve, Polymorphism, Single Nucleotide, Receptors, Cytoplasmic and Nuclear
Research areas
ID: 47742873