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Non-syndromic Hearing Impairment in a Hungarian Family with the m.7510T>C Mutation of Mitochondrial tRNA(Ser(UCN)) and Review of Published Cases
The m.7510T>C mitochondrial DNA (mtDNA) mutation is a tRNA(Ser(UCN)) alteration leading to matrilineal isolated hearing impairment. The current paper reviews the available reports on the m.7510T>C mtDNA mutation, with special attention to phenotypic variations and haplogroup background. A Hung...
में बचाया:
| मुख्य लेखकों: | , , , , , , , , , |
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| स्वरूप: | Artigo |
| भाषा: | Inglês |
| प्रकाशित: |
Springer Berlin Heidelberg
2012
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| विषय: | |
| ऑनलाइन पहुंच: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3565634/ https://ncbi.nlm.nih.gov/pubmed/23430555 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/8904_2012_187 |
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