Article
Functional characterization of novel mutations in the human cytochrome b gene.
European journal of human genetics : EJHG - 1 Jul 2001
Legros F, Chatzoglou E, Frachon P, Ogier De Baulny H, Laforêt P, Jardel C, Godinot C, Lombès A
Abstract excerpt
The great variability of the human mitochondrial DNA (mtDNA) sequence induces many difficulties in the search for its deleterious mutations. We illustrate these pitfalls by the analysis of the cytochrome b gene of 21 patients affected with a mitochondrial disease. Eighteen different sequence variations were found, five of which were new mutations. Extensive analysis of the cytochrome b gene of 146 controls found...
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