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A new mtDNA mutation associated with Leber hereditary optic neuroretinopathy.
A single base mutation at nucleotide position 3460 (nt 3460) in the ND1 gene in human mtDNA was found to be associated with Leber hereditary optic neuroretinopathy (LHON). The G-to-A mutation converts an alanine to a threonine at the 52d codon of the gene. The mutation also abolishes an AhaII restri...
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Hlavní autoři: | , , , , |
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Médium: | Artigo |
Jazyk: | Inglês |
Vydáno: |
1991
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Témata: | |
On-line přístup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC1683111/ https://ncbi.nlm.nih.gov/pubmed/1674640 |
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