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MUTATIONS IN NOD2 ARE ASSOCIATED WITH FIBROSTENOSING DISEASE IN PATIENTS WITH CROHN'S DISEASE

机译:患有冠心病的患者中NOD2的突变与纤维化疾病相关

摘要

PROBLEM TO BE SOLVED: To provide genetic methods for diagnosing mutations linked to the NOD2/CARD15 gene and clinical subtypes of Crohn's disease.SOLUTION: A method of diagnosing a clinical subtype of Crohn's disease characterized by fibrostenosing disease or of predicting susceptibility to the clinical subtype includes a step of determining the presence or absence in an individual of a fibrostenosis-predisposing allele linked to a NOD2/CARD15 locus, where the presence of the fibrostenosis-predisposing allele is diagnostic of or predictive of susceptibility to the clinical subtype of Crohn's disease characterized by fibrostenosing disease. The clinical subtype of Crohn's disease can be, for example, characterized by fibrostenosing disease independent of small bowel involvement.
机译:解决的问题:提供遗传方法来诊断与NOD2 / CARD15基因相关的突变和克罗恩病的临床亚型解决方案:一种诊断克罗恩病的临床亚型的方法,该疾病的特征是纤维狭窄性疾病或预测对该临床亚型的易感性包括确定个体中是否存在与NOD2 / CARD15基因座相关的易患纤维狭窄的等位基因的步骤,其中易患纤维化狭窄的等位基因可诊断或预测对克罗恩病临床亚型的易感性通过纤维收缩疾病。克罗恩氏病的临床亚型可以例如以与小肠受累无关的纤维狭窄症为特征。

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