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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Detalhes bibliográficos
Main Authors: Howell, N, Bindoff, L A, McCullough, D A, Kubacka, I, Poulton, J, Mackey, D, Taylor, L, Turnbull, D M
Formato: Artigo
Idioma:Inglês
Publicado em: 1991
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1683233/
https://ncbi.nlm.nih.gov/pubmed/1928099
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