載入...
A Novel Nonsense Mutation in PANK2 Gene in Two Patients with Pantothenate Kinase-Associated Neurodegeneration
Pantothenate kinase- associated neurodegeneration (PKAN) syndrome is a rare autosomal recessive disorder characterized by progressive extrapyramidal dysfunction and iron accumulation in the brain and axonal spheroids in the central nervous system. It has been shown that the disorder is caused by mut...
Na minha lista:
| 發表在: | Int J Mol Cell Med |
|---|---|
| Main Authors: | , , , , , |
| 格式: | Artigo |
| 語言: | Inglês |
| 出版: |
Babol University of Medical Sciences
2016
|
| 主題: | |
| 在線閱讀: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5353987/ https://ncbi.nlm.nih.gov/pubmed/28357202 |
| 標簽: |
添加標簽
沒有標簽, 成為第一個標記此記錄!
|