Yüklüyor......
Missense mutations in ITPR1 cause autosomal dominant congenital nonprogressive spinocerebellar ataxia
BACKGROUND: Congenital nonprogressive spinocerebellar ataxia is characterized by early gross motor delay, hypotonia, gait ataxia, mild dysarthria and dysmetria. The clinical presentation remains fairly stable and may be associated with cerebellar atrophy. To date, only a few families with autosomal...
Kaydedildi:
| Asıl Yazarlar: | , , , , , , , , , , |
|---|---|
| Materyal Türü: | Artigo |
| Dil: | Inglês |
| Baskı/Yayın Bilgisi: |
BioMed Central
2012
|
| Konular: | |
| Online Erişim: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3545966/ https://ncbi.nlm.nih.gov/pubmed/22986007 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1750-1172-7-67 |
| Etiketler: |
Etiketle
Etiket eklenmemiş, İlk siz ekleyin!
|