載入...
Mutation analysis of the CTNS gene in Iranian patients with infantile nephropathic cystinosis: identification of two novel mutations
Nephropathic cystinosis is an inherited lysosomal transport disorder caused by mutations in the CTNS gene that encodes for a lysosomal membrane transporter, cystinosin. Dysfunction in this protein leads to cystine accumulation in the cells of different organs. The accumulation of cystine in the kidn...
Na minha lista:
| 發表在: | Hum Genome Var |
|---|---|
| Main Authors: | , , , |
| 格式: | Artigo |
| 語言: | Inglês |
| 出版: |
Nature Publishing Group
2017
|
| 主題: | |
| 在線閱讀: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5628181/ https://ncbi.nlm.nih.gov/pubmed/28983406 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/hgv.2017.38 |
| 標簽: |
添加標簽
沒有標簽, 成為第一個標記此記錄!
|