載入...
The Opdc missense mutation of Pax2 has a milder than loss-of-function phenotype
Renal-coloboma syndrome, also known as papillorenal syndrome, is an autosomal dominant human disorder in which optic disc coloboma is associated with kidney abnormalities. Mutations in the paired domain transcription factor PAX2 have been found to be the underlying cause of this disease. Disease sev...
Na minha lista:
| Main Authors: | , , , , , , , |
|---|---|
| 格式: | Artigo |
| 語言: | Inglês |
| 出版: |
Oxford University Press
2011
|
| 主題: | |
| 在線閱讀: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3005898/ https://ncbi.nlm.nih.gov/pubmed/20943750 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddq457 |
| 標簽: |
添加標簽
沒有標簽, 成為第一個標記此記錄!
|