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APPLICATION OF APRATAXIN GENE TO DIAGNOSIS AND TREATMENT FOREARLY-ONSET SPINOCEREBELLAR ATAXIA (EAOH)
APPLICATION OF APRATAXIN GENE TO DIAGNOSIS AND TREATMENT FOREARLY-ONSET SPINOCEREBELLAR ATAXIA (EAOH)
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机译:APRATAXIN基因在早发性脊柱小球囊性小囊癌(EAOH)的诊断和治疗中的应用
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摘要
The present invention provides an aprataxin gene involved in early-onset spinocerebellar ataxia with ocular motor apraxia and hypoalbuminemia (EAOH) and a protein encoded by the gene; and application of a mutant aprataxin gene involved in the onset of EAOH and a protein encoded by the mutant gene to treatment and diagnosis of the disease. The present invention also provides a human aprataxin protein or a gene for treatment of early-onset spinocerebellar ataxia with ocular motor apraxia and hypoalbuminemia (EAOH); and a human aprataxin gene DNA or fragments thereof for detecting EAOH.
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