Haplotype and phylogenetic analyses suggest that one European-specific mtDNA background plays a role in the expression of Leber hereditary optic neuropathy by increasing the penetrance of the primary mutations 11778 and 14484.

mtDNAs from 37 Italian subjects affected by Leber hereditary optic neuropathy (LHON) (28 were 11778 positive, 7 were 3460 positive, and 2 were 14484 positive) and from 99 Italian controls were screened for most of the mutations that currently are associated with LHON. High-resolution restriction-end...

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Détails bibliographiques
Auteurs principaux: Torroni, A, Petrozzi, M, D'Urbano, L, Sellitto, D, Zeviani, M, Carrara, F, Carducci, C, Leuzzi, V, Carelli, V, Barboni, P, De Negri, A, Scozzari, R
Format: Artigo
Langue:Inglês
Publié: 1997
Sujets:
Research Article
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC1712418/
https://ncbi.nlm.nih.gov/pubmed/9150158
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