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DIAGNOSIS AND TREATMENT OF EXOCRINE PANCREATIC DYSFUNCTION AND DIABETES

机译:外分泌型胰腺功能障碍与糖尿病的诊断与治疗

摘要

The present invention relates to association of one or more polymorphisms located in the human CEL gene to the occurrence of exocrine pancreatic dysfunction and a endocrine pancreatic dysfunction in the form of diabetes. The invention relates both to methods for diagnosing a predisposition to said diseases, classifying said diseases and to methods and compositions for treating subjects with said diseases. Furthermore the invention relates to screens for identifying compounds effective in treating said diseases. The invention describes specific single nucleotide polymorphisms the presence of which in the genome of an individual is strongly associated with the predisposition of said individual to exocrine pancreatic dysfunction and diabetes.
机译:本发明涉及位于人CEL基因中的一种或多种多态性与糖尿病形式的外分泌胰腺功能障碍和内分泌胰腺功能障碍的发生的关联。本发明既涉及用于诊断所述疾病的易感性,将所述疾病分类的方法,也涉及用于治疗患有所述疾病的受试者的方法和组合物。此外,本发明涉及用于鉴定对所述疾病有效的化合物的筛选。本发明描述了特定的单核苷酸多态性,其在个体基因组中的存在与所述个体易患外分泌性胰腺功能障碍和糖尿病的倾向密切相关。

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