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 |
代理机构 |
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代理人 |
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主权项 |
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地址 |
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