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MUTATION WITHIN THE CONNEXIN 26 GENE RESPONSIBLE FOR PRELINGUAL NON-SYNDROMIC DEAFNESS AND METHOD OF DETECTION

机译:耳鼻咽喉癌前症候群非特异性聋的连接蛋白26基因突变及检测方法

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.
机译:具有对应于突变序列的核苷酸链的纯化的多核苷酸,其以野生形式编码与遗传的感觉缺陷有关的多肽,其中所述突变的纯化的多核苷酸呈现出引起舌前非综合征性耳聋的突变,所述突变选自下组:至少一个核苷酸的特异性缺失。

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