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A novel mutation in the mitochondrial tRNA(Ser(UCN)) gene in a family with non-syndromic sensorineural hearing impairment
We describe a family with non-syndromic sensorineural hearing impairment inherited in a manner consistent with maternal transmission. Affected members were found to have a novel heteroplasmic mtDNA mutation, T7510C, in the tRNA(Ser(UCN)) gene. This mutation was not found in 661 controls, is well con...
Αποθηκεύτηκε σε:
| Κύριοι συγγραφείς: | , , , , , , , , |
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| Μορφή: | Artigo |
| Γλώσσα: | Inglês |
| Έκδοση: |
BMJ Group
2000
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| Θέματα: | |
| Διαθέσιμο Online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC1734692/ https://ncbi.nlm.nih.gov/pubmed/10978361 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.37.9.692 |
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