An mtDNA mutation, 14453G1A, in the NADH dehydrogenase subunit 6 associated with severe MELAS syndro...
An mtDNA mutation, 14453G1A, in the NADH dehydrogenase subunit 6 associated with severe MELAS syndrome
About this item
Full title
An mtDNA mutation, 14453G1A, in the NADH dehydrogenase subunit 6 associated with severe MELAS syndrome
Author / Creator
Journal title
European journal of human genetics : EJHG, 2001-10, Vol.9 (10), p.805-809
Language
English
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Scope and Contents
Contents
We report a novel point mutation in the gene for the mitochondrially encoded ND6 subunit of the NADH:ubiquinone oxidoreductase (complex I of the respiratory chain) in a patient with MELAS syndrome. The mutation causes a change from alanine to valine in the most conserved region of the ND6 subunit. The patient was heteroplasmic for the mutation in b...
Alternative Titles
Full title
An mtDNA mutation, 14453G1A, in the NADH dehydrogenase subunit 6 associated with severe MELAS syndrome
Authors, Artists and Contributors
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Record Identifier
TN_cdi_proquest_miscellaneous_754896590
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_754896590
Other Identifiers
ISSN
1018-4813
DOI
10.1038/sj.ejhg.5200712
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