Lataa...
Autosomal recessive cerebellar ataxia caused by mutations in the PEX2 gene
OBJECTIVE: To expand the spectrum of genetic causes of autosomal recessive cerebellar ataxia (ARCA). CASE REPORT: Two brothers are described who developed progressive cerebellar ataxia at 3 1/2 and 18 years, respectively. After ruling out known common genetic causes of ARCA, analysis of blood peroxi...
Tallennettuna:
| Päätekijät: | , , , , |
|---|---|
| Aineistotyyppi: | Artigo |
| Kieli: | Inglês |
| Julkaistu: |
BioMed Central
2011
|
| Aiheet: | |
| Linkit: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3064617/ https://ncbi.nlm.nih.gov/pubmed/21392394 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1750-1172-6-8 |
| Tagit: |
Lisää tagi
Ei tageja, Lisää ensimmäinen tagi!
|