首页>
外国专利>
GENETIC MUTATION ASSOCIATED WITH BENIGN FAMILIAL NEONATAL CONVULSION AND METHOD FOR DIAGNOSING BENIGN FAMILIAL NEONATAL CONVULSION
GENETIC MUTATION ASSOCIATED WITH BENIGN FAMILIAL NEONATAL CONVULSION AND METHOD FOR DIAGNOSING BENIGN FAMILIAL NEONATAL CONVULSION
展开▼
机译:良性家族性新生儿惊厥的遗传突变和诊断良性家族性新生儿惊厥的方法
展开▼
页面导航
摘要
著录项
相似文献
摘要
PROBLEM TO BE SOLVED: To obtain a new genetic mutation associated with a benign familial neonatal convulsion (BFCN) existing in a KCNQ2 gene and to provide a method for diagnosing BFCN using the genetic mutation.;SOLUTION: The polynucleotide contains at least one of nucleotide mutations of (a) ttc at 910-912 positions are deleted and (b) c at 967 position is replaced with t in a specific animal-derived DNA sequence. The polypeptide has an amino acid mutation caused by the nucleotide mutation. The method for diagnosing a benign familial neonatal convulsion comprises detecting the mutation.;COPYRIGHT: (C)2005,JPO&NCIPI
展开▼