Wordt geladen...
Identification of a novel mutation in the APTX gene associated with ataxia-oculomotor apraxia
Hereditary ataxias are a clinically and genetically heterogeneous family of disorders defined by the inability to control gait and muscle coordination. Given the nonspecific symptoms of many hereditary ataxias, precise diagnosis relies on molecular genetic testing. To this end, we conducted whole-ex...
Bewaard in:
| Gepubliceerd in: | Cold Spring Harb Mol Case Stud |
|---|---|
| Hoofdauteurs: | , , , , , , , |
| Formaat: | Artigo |
| Taal: | Inglês |
| Gepubliceerd in: |
Cold Spring Harbor Laboratory Press
2017
|
| Onderwerpen: | |
| Online toegang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5701303/ https://ncbi.nlm.nih.gov/pubmed/28652255 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1101/mcs.a002014 |
| Tags: |
Voeg label toe
Geen labels, Wees de eerste die dit record labelt!
|