Yüklüyor......
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...
Kaydedildi:
| Yayımlandı: | Int J Mol Cell Med |
|---|---|
| Asıl Yazarlar: | , , , , , |
| Materyal Türü: | Artigo |
| Dil: | Inglês |
| Baskı/Yayın Bilgisi: |
Babol University of Medical Sciences
2016
|
| Konular: | |
| Online Erişim: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5353987/ https://ncbi.nlm.nih.gov/pubmed/28357202 |
| Etiketler: |
Etiketle
Etiket eklenmemiş, İlk siz ekleyin!
|