发明名称 MUTATION WITHIN THE CONNEXIN 26 GENE RESPONSIBLE FOR PRELINGUAL NON-SYNDROMIC DEAFNESS AND METHOD OF DETECTION
摘要 A purified polynucleotide having a chain of nucleotides corresponding to a mutated sequence, which in a wild form encodes a polypeptide implicated in hereditary sensory defect, wherein said mutated purified polynucleotide presents a mutation responsible for prelingual non-syndromic deafness selected from the group consisting of a specific deletion of at least one nucleotide.
申请公布号 US2014113285(A1) 申请公布日期 2014.04.24
申请号 US201313899963 申请日期 2013.05.22
申请人 PETIT CHRISTINE;DENOYELLE-GRYSON FRANCOISE;WEIL DOMINIQUE;MARLIN-DUVERNOIS SANDRINE;GUESDON JEAN-LUC;CENTRE NATIONAL DE LA RECHERCHE SCIENTIFIQUE;INSTITUT PASTEUR 发明人 PETIT CHRISTINE;DENOYELLE-GRYSON FRANCOISE;WEIL DOMINIQUE;MARLIN-DUVERNOIS SANDRINE;GUESDON JEAN-LUC
分类号 C12Q1/68;G01N33/53;C12N15/09;G01N33/566 主分类号 C12Q1/68
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