Functional characterization of novel mutations in the human cytochrome b gene
Functional characterization of novel mutations in the human cytochrome b gene
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Full title
Author / Creator
Legros, F , Chatzoglou, E , Frachon, P , Ogier De Baulny, H , Laforêt, P , Jardel, C , Godinot, C and Lombès, A
Publisher
England: Nature Publishing Group
Journal title
Language
English
Formats
Publication information
Publisher
England: Nature Publishing Group
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Scope and Contents
Contents
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....
Alternative Titles
Full title
Functional characterization of novel mutations in the human cytochrome b gene
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Author / Creator
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Record Identifier
TN_cdi_proquest_miscellaneous_754895359
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_754895359
Other Identifiers
ISSN
1018-4813
E-ISSN
1476-5438
DOI
10.1038/sj.ejhg.5200678