載入...
Mutations of ADAMTS9 Cause Nephronophthisis-Related Ciliopathy
Nephronophthisis-related ciliopathies (NPHP-RCs) are a group of inherited diseases that are associated with defects in primary cilium structure and function. To identify genes mutated in NPHP-RC, we performed homozygosity mapping and whole-exome sequencing for >100 individuals, some of whom were...
Na minha lista:
| 發表在: | Am J Hum Genet |
|---|---|
| Main Authors: | , , , , , , , , , , , , , , , , |
| 格式: | Artigo |
| 語言: | Inglês |
| 出版: |
Elsevier
2019
|
| 主題: | |
| 在線閱讀: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6323550/ https://ncbi.nlm.nih.gov/pubmed/30609407 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2018.11.003 |
| 標簽: |
添加標簽
沒有標簽, 成為第一個標記此記錄!
|