Leber hereditary optic neuropathy: identification of the same mitochondrial ND1 mutation in six pedigrees.

Biochemical and molecular genetic evidence is presented that in six independent pedigrees the development of Leber hereditary optic neuropathy (LHON) is due to the same primary mutation in the mitochondrial ND1 gene. A LHON family from the Newcastle area of Great Britain was analyzed in depth to det...

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Bibliographic Details
Main Authors: Howell, N, Bindoff, L A, McCullough, D A, Kubacka, I, Poulton, J, Mackey, D, Taylor, L, Turnbull, D M
Format: Artigo
Language:Inglês
Published: 1991
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Research Article
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC1683233/
https://ncbi.nlm.nih.gov/pubmed/1928099
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