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Detection method for the diagnosis of disease and genetic polymorphisms present in the gene CMYA5

机译:诊断基因CMYA5中存在的疾病和遗传多态性的检测方法

摘要

The present invention provides methods of detecting a genetic risk of a disease associated with a SNP present in the CMYA5 genes, diagnostic agents, diagnostic kits. For more information, there is provided a method of detecting a genetic predisposition to blood creatinine value variation heart disease, muscle disease, kidney disease, or hormone deficiency, in living tissue, in the genome CMYA5 (cardiomyopathy associated 5) gene and its expression product and detecting that it has the base sequence or the like leading to amino acid mutations.
机译:本发明提供了检测与存在于CMYA5基因中的SNP有关的疾病的遗传风险的方法,诊断剂,诊断试剂盒。欲了解更多信息,提供了一种在基因组CMYA5(心肌病相关5)基因及其表达产物中检测血肌酐值变化的遗传易感性的方法,所述遗传易感性是活组织中心脏病,肌肉疾病,肾脏疾病或激素缺乏的原因检测其具有导致氨基酸突变的碱基序列等。

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