Mutation in PNPT1, which encodes a polyribonucleotide nucleotidyltransferase, impairs RNA import into mitochondria and causes respiratory-chain deficiency. [electronic resource]
Producer: 20130114Description: 912-8 p. digitalISSN:- 1537-6605
- Adolescent
- Brain -- pathology
- Child, Preschool
- DNA, Mitochondrial -- genetics
- Exons
- Exoribonucleases -- genetics
- Female
- Hep G2 Cells
- Humans
- Magnetic Resonance Imaging
- Male
- Mitochondrial Diseases -- diagnosis
- Mutation
- RNA Interference
- RNA Transport -- genetics
- RNA, Ribosomal -- metabolism
- RNA, Transfer -- metabolism
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Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
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