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METHOD OF EVALUATING THE RESPONSE OF ATAXIA TELANGIECTASIA PATIENTS TO GLUCOCORTICOIDS TREATMENT
专利权人:
ERYDEL S.P.A.
发明人:
MAGNANI, MAURO,BIAGIOTTI, SARA,MENOTTA, MICHELE
申请号:
CA2974181
公开号:
CA2974181A1
申请日:
2016.01.19
申请国别(地区):
CA
年份:
2016
代理人:
摘要:
The present invention relates to a novel procedure for evaluating the response of patients affected by Ataxia Talangiectasia (A-T) to glucocorticoids treatment. In particular, the procedure provides a step of qualitative and/or quantitative identification in the blood of said patients of the expression of a mRNA variant of the ATM (Ataxia-Talangiectasia-Mutated) gene produced by non-canonical splicing induced by glucocorticoid (GC). In fact, it was demonstrated that mRNA variant expression is present in the blood of patients who responded positively to treatment with GC.
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