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- W2389802915 abstract "Objective To conduct a survey of the etiologic causes of severe-profound hearing loss in Yuncheng, Shanxi. Methods The evaluation of hearing loss, etiologic survey and the molecular genetic analysis for genes common to hereditary hearing disorders were performed in 139 non-syndromic hearing impairment students at the Deaf-Mute School in Yuncheng, Shanxi. Results Of the 139 patients with nonsyndromic hearing impairment (NSHI) seven were found to carry the mtDNA 12SrRNA A1555G mutation; 8 cases were shown to carry the GJB2 235delC homozygous mutation while other 14 cases, to carry the GJB2 235delC heterozygous mutation. Conclusions There are a high frequency (20.87%) of the GJB2 gene and mtDNA mutations among the deaf-mute school students in Yuncheng, Shanxi. Molecular genetic screening for these mutations and genetic counseling are effective methods to prevent the occurrence of hereditary hearing loss." @default.
- W2389802915 created "2016-06-24" @default.
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- W2389802915 date "2006-01-01" @default.
- W2389802915 modified "2023-09-23" @default.
- W2389802915 title "Melecular genetic analysis of GJB2 gene and mtDNA 12SrRNA A1555G mutations in severe-profound hearing loss patients in Yuncheng, Shanxi Province of China" @default.
- W2389802915 hasPublicationYear "2006" @default.
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