Two large French pedigrees with non syndromic sensorineural deafness and the mitochondrial DNA T7511...
Two large French pedigrees with non syndromic sensorineural deafness and the mitochondrial DNA T7511C mutation: evidence for a modulatory factor
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Publisher
England: Nature Publishing Group
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Language
English
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Publisher
England: Nature Publishing Group
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Hearing impairment is the most frequent sensory defect in children, with a genetic basis in about 50% of cases. Several point mutations and deletions in mitochondrial DNA (mtDNA) have been identified in non-syndromic sensorineural hearing loss (NSSNHL). Beside the frequent A1555G mutation, a number of mutations in tRNAs have been reported recently,...
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Full title
Two large French pedigrees with non syndromic sensorineural deafness and the mitochondrial DNA T7511C mutation: evidence for a modulatory factor
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TN_cdi_proquest_miscellaneous_72729625
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_72729625
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ISSN
1018-4813
E-ISSN
1476-5438
DOI
10.1038/sj.ejhg.5200894
