Thymidine Phosphorylase Gene Mutations in MNGIE, a Human Mitochondrial Disorder
Thymidine Phosphorylase Gene Mutations in MNGIE, a Human Mitochondrial Disorder
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Washington, DC: American Society for the Advancement of Science
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Language
English
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Washington, DC: American Society for the Advancement of Science
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Contents
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is an autosomal recessive human disease associated with multiple deletions of skeletal muscle mitochondrial DNA (mtDNA), which have been ascribed to a defect in communication between the nuclear and mitochondrial genomes. Examination of 12 MNGIE probands revealed homozygous or compound-h...
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Full title
Thymidine Phosphorylase Gene Mutations in MNGIE, a Human Mitochondrial Disorder
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TN_cdi_proquest_miscellaneous_743770488
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_743770488
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ISSN
0036-8075
E-ISSN
1095-9203
DOI
10.1126/science.283.5402.689
