Specific Correlation between the Wobble Modification Deficiency in Mutant tRNAs and the Clinical Fea...
Specific Correlation between the Wobble Modification Deficiency in Mutant tRNAs and the Clinical Features of a Human Mitochondrial Disease
About this item
Full title
Author / Creator
Publisher
United States: National Academy of Sciences
Journal title
Language
English
Formats
Publication information
Publisher
United States: National Academy of Sciences
Subjects
More information
Scope and Contents
Contents
Mutations in mtDNA are responsible for a variety of mitochondrial diseases, where the mitochondrial tRNALeu( UUR)gene has especially hot spots for pathogenic mutations. Clinical features often depend on the tRNA species and/or positions of the mutations; however, molecular pathogenesis elucidating the relation between the location of the mutations...
Alternative Titles
Full title
Specific Correlation between the Wobble Modification Deficiency in Mutant tRNAs and the Clinical Features of a Human Mitochondrial Disease
Authors, Artists and Contributors
Author / Creator
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_proquest_miscellaneous_67844788
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_67844788
Other Identifiers
ISSN
0027-8424
E-ISSN
1091-6490
DOI
10.1073/pnas.0500563102
