发明名称 METHOD FOR GENETIC DIAGNOSTICS OF SENSORINEURAL DEAFNESS IN CHILDREN
摘要 A method for the genetic diagnostics of the sensorineural deafness in the children provides for ENT examination, audiometry, impedansometry, otoacoustic emission, tympanometry, and the analysis of the allele of GJB2 gene (rs 121011) and expression of conexin-26. The carriers of 35delG mutation of GJB2 gene with the decreased conexin-26 expression are delineated as the candidates at high risk of the sporadic sensorineural deafness with severe clinical course and unfavorable prognosis.
申请公布号 UA90489(U) 申请公布日期 2014.05.26
申请号 UA20140000253U 申请日期 2014.01.13
申请人 Іфтода Оксана Миколаївна;Сидорчук Лариса Петрівна;Кушнір Оксана Василівна 发明人 Іфтода Оксана Миколаївна;Сидорчук Лариса Петрівна;Кушнір Оксана Василівна
分类号 A61B5/12;A61B5/0488 主分类号 A61B5/12
代理机构 代理人
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