Clinical and molecular characterization of a Chinese patient with auditory neuropathy associated with mitochondrial 12S rRNA T1095C mutation
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Reference26 articles.
1. Sequence and organization of the human mitochondrial genome
2. Susceptibility mutations in the mitochondrial small ribosomal RNA gene in aminoglycoside induced deafness
3. Sequence and gene organization of mouse mitochondrial DNA
4. Inherited susceptibility to aminoglycoside ototoxicity: Genetic heterogeneity and clinical implications
5. Heteroplasmy for the 1555A>G mutation in the mitochondrial 12S rRNA gene in six Spanish families with non-syndromic hearing loss
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