Balogh et al., 2020
- Pseudouridylation defect due to DKC1 and NOP10 mutations causes nephrotic syndrome with cataracts, hearing impairment, and enterocolitis.
Proceedings of the National Academy of Sciences of the United States of America
117(26):15137-15147
Full text @ Proc. Natl. Acad. Sci. USA
| Marker Type | Symbol | Name |
|---|---|---|
| Gene | ccnd1 | cyclin D1 |
| Gene | dkc1 | dyskeratosis congenita 1, dyskerin |
| Gene | fabp2 | fatty acid binding protein 2, intestinal |
| Gene | gata1a | GATA binding protein 1a |
| Gene | myb | v-myb avian myeloblastosis viral oncogene homolog |
| Gene | prss1 | serine protease 1 |
| Gene | rag1 | recombination activating 1 |
| Gene | tp53 | tumor protein p53 |