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SETX mutations are a frequent genetic cause of juvenile and adult onset cerebellar ataxia with neuropathy and elevated serum alpha-fetoprotein
OBJECTIVES/BACKGROUND: Ataxia with oculomotor apraxia defines a group of genetically distinct recessive ataxias including ataxia-telangectasia (A-T, ATM gene), ataxia with oculomotor apraxia type 1 (AOA1, APTX gene) and type 2 (AOA2, SETX gene). Although, a few unique clinical features differentiate...
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Asıl Yazarlar: | , , , , , , , , , , , |
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Materyal Türü: | Artigo |
Dil: | Inglês |
Baskı/Yayın Bilgisi: |
BioMed Central
2013
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Konular: | |
Online Erişim: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3751478/ https://ncbi.nlm.nih.gov/pubmed/23941260 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1750-1172-8-123 |
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