发明名称 |
MUTATION WITHIN THE CONNEXIN 26 GENE RESPONSIBLE FOR PRELINGUAL NON-SYNDROMIC DEAFNESS AND METHOD OF DETECTION |
摘要 |
<p>A purified polynucleotide having a chain of nucleotides corresponding to a mutated sequence, which in a wild type 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.</p> |
申请公布号 |
PT1003865(E) |
申请公布日期 |
2008.10.14 |
申请号 |
PT19980945246T |
申请日期 |
1998.08.14 |
申请人 |
INSTITUT PASTEUR |
发明人 |
JEAN-LUC GUESDON;CHRISTINE PETIT;FRANCOISE DENOYELLE-GRYSON;DOMINIQUE WEIL;SANDRINE MARLIN-DUVERNOIS |
分类号 |
C12N15/12;G01N33/53;C12N15/09;C12Q1/68;G01N33/566 |
主分类号 |
C12N15/12 |
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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