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Leber's hereditary optic neuropathy: heteroplasmy is likely to be significant in the expression of LHON in families with the 3460 ND1 mutation.

AIM: To assess the effect of heteroplasmy on the expression of Leber's hereditary optic neuropathy (LHON) in a large family with the 3460 LHON mutation. METHODS: Mutation detection was performed by restriction enzyme digestion of polymerase chain reaction (PCR) products. Heteroplasmy was estima...

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Autori principali: Black, G C, Morten, K, Laborde, A, Poulton, J
Natura: Artigo
Lingua:Inglês
Pubblicazione: 1996
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC505650/
https://ncbi.nlm.nih.gov/pubmed/8976705
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