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Collated mutations in mitochondrial DNA (mtDNA) depletion syndrome (excluding the mitochondrial gamma polymerase, POLG1).

Abstract:
These tables list both published and a number of unpublished mutations in genes associated with early onset defects in mitochondrial DNA (mtDNA) maintenance including C10orf2, SUCLG1, SUCLA2, TYMP, RRM2B, MPV17, DGUOK and TK2. The list should not be taken as evidence that any particular mutation is pathogenic. We have included genes known to cause mtDNA depletion, excluding POLG1, because of the existing database (http://tools.niehs.nih.gov/polg/). We have also excluded mutations in C10orf2 associated with dominant adult onset disorders.
Publication status:
Published

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Institution:
University of Oxford
Division:
MSD
Department:
Women's and Reproductive Health
Role:
Author
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Journal:
Biochimica et biophysica acta
Volume:
1792
Issue:
12
Pages:
1109-1112
Publication date:
2009-12-01
DOI:
ISSN:
0006-3002
Source identifiers:
248253
Language:
English
Keywords:
Pubs id:
pubs:248253
UUID:
uuid:686c7bf2-2235-46c6-8856-16658bb91483
Local pid:
pubs:248253
Deposit date:
2012-12-19

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