首页>
外国专利>
KIT FOR DIAGNOSING AUTOSOMAL RECESSIVE MENDELIAN DISORDERS
KIT FOR DIAGNOSING AUTOSOMAL RECESSIVE MENDELIAN DISORDERS
展开▼
机译:诊断自体迟发性孟德尔疾病的试剂盒
展开▼
页面导航
摘要
著录项
相似文献
摘要
PURPOSE: A kit for diagnosing autosomal recessive Mendelian disorders (AR-MDs) is provided to simply and accurately diagnose AR-MDs which are hard to diagnose, thereby preventing and treating AR-MDs.;CONSTITUTION: A kit for diagnosing AR-MDs contains a device for detecting G6PC gene or TSHR gene mutation. G6PC gene has a polynucleotide sequence of sequence number 1 or a polynucleotide sequence encoding an amino acid sequence of sequence number 2. The mutation in G6PC gene is G122D or c.648GT. TSHR gene contains a polynucleotide sequence of sequence number 3 and a polynucleotide sequence encoding an amino acid sequence of sequence number 4.;COPYRIGHT KIPO 2013
展开▼