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Disease-Associated Mutations Inactivate AMP-Lysine Hydrolase Activity of Aprataxin
Ataxia-oculomotor apraxia syndrome 1 is an early onset cerebellar ataxia that results from loss of function mutations in the APTX gene, encoding Aprataxin, which contains three conserved domains. The forkhead associated domain of Aprataxin mediates protein-protein interactions with molecules that re...
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| Main Authors: | , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2005
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2556069/ https://ncbi.nlm.nih.gov/pubmed/15790557 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1074/jbc.M502889200 |
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