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
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