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Leigh Syndrome in a Pedigree Harboring the m.1555A>G Mutation in the Mitochondrial 12S rRNA
Background: Leigh syndrome (LS) is a serious genetic disease that can be caused by mutations in dozens of different genes. Methods: Clinical study of a deafness pedigree in which some members developed LS. Cellular, biochemical and molecular genetic analyses of patients’ tissues and cybrid cell line...
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| Gepubliceerd in: | Genes (Basel) |
|---|---|
| Hoofdauteurs: | , , , , , , , , , |
| Formaat: | Artigo |
| Taal: | Inglês |
| Gepubliceerd in: |
MDPI
2020
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| Onderwerpen: | |
| Online toegang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7565518/ https://ncbi.nlm.nih.gov/pubmed/32867169 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/genes11091007 |
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