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Limited dCTP availability accounts for mitochondrial DNA depletion in mitochondrial neurogastrointes...

Limited dCTP availability accounts for mitochondrial DNA depletion in mitochondrial neurogastrointes...

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_plos_journals_1313562311

Limited dCTP availability accounts for mitochondrial DNA depletion in mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)

About this item

Full title

Limited dCTP availability accounts for mitochondrial DNA depletion in mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)

Publisher

United States: Public Library of Science

Journal title

PLoS genetics, 2011-03, Vol.7 (3), p.e1002035-e1002035

Language

English

Formats

Publication information

Publisher

United States: Public Library of Science

More information

Scope and Contents

Contents

Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is a severe human disease caused by mutations in TYMP, the gene encoding thymidine phosphorylase (TP). It belongs to a broader group of disorders characterized by a pronounced reduction in mitochondrial DNA (mtDNA) copy number in one or more tissues. In most cases, these disorders are ca...

Alternative Titles

Full title

Limited dCTP availability accounts for mitochondrial DNA depletion in mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_plos_journals_1313562311

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_plos_journals_1313562311

Other Identifiers

ISSN

1553-7404,1553-7390

E-ISSN

1553-7404

DOI

10.1371/journal.pgen.1002035

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