An example of Leber hereditary optic neuropathy not involving a mutation in the mitochondrial ND4 gene.

A large Australian family afflicted with Leber's Hereditary Optic Neuropathy (LHON) is analyzed at the nucleotide sequence level in this report. Biochemical assays of platelet mitochondria isolated from members of this family have demonstrated a significant decrease in the specific activity of...

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Bibliographic Details
Main Authors: Howell, N, McCullough, D
Format: Artigo
Language:Inglês
Published: 1990
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Research Article
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC1683808/
https://ncbi.nlm.nih.gov/pubmed/2121024
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