A novel mutation of the NDUFS7 gene leads to activation of a cryptic exon and impaired assembly of mitochondrial complex I in a patient with Leigh syndrome. [electronic resource]
Producer: 20071129Description: 104-8 p. digitalISSN:- 1096-7192
- Amino Acid Sequence
- Base Sequence
- DNA Mutational Analysis
- Electron Transport Complex I -- deficiency
- Exons -- genetics
- Female
- Humans
- Infant
- Introns -- genetics
- Leigh Disease -- genetics
- Male
- Mitochondria -- genetics
- Molecular Sequence Data
- Mutation -- genetics
- NADH Dehydrogenase -- genetics
- Pedigree
- RNA Splicing
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Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
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