ロード中...
Genetic basis of cystinosis in Tunisian patients: Identification of novel mutation in CTNS gene
Nephropathic cystinosis (NC) is an autosomal recessive disorder characterized by defective transport of cystine across the lysosomal membrane and resulting in renal, ophthalmic, and other organ abnormalities. Mutations in the CTNS gene cause a deficiency of the transport protein, cystinosin. This st...
保存先:
| 出版年: | Meta Gene |
|---|---|
| 主要な著者: | , , , , , , , , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
Elsevier
2015
|
| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4528043/ https://ncbi.nlm.nih.gov/pubmed/26266097 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.mgene.2015.07.003 |
| タグ: |
タグ追加
タグなし, このレコードへの初めてのタグを付けませんか!
|