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Functional characterization of novel mutations in the human cytochrome b gene

Functional characterization of novel mutations in the human cytochrome b gene

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_754895359

Functional characterization of novel mutations in the human cytochrome b gene

About this item

Full title

Functional characterization of novel mutations in the human cytochrome b gene

Publisher

England: Nature Publishing Group

Journal title

European journal of human genetics : EJHG, 2001-07, Vol.9 (7), p.510-518

Language

English

Formats

Publication information

Publisher

England: Nature Publishing Group

More information

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

Identifiers

Primary Identifiers

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

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