Mutation in the NDUFS4 gene of complex I abolishes cAMP-dependent activation of the complex in a child with fatal neurological syndrome. [electronic resource]
Producer: 20010315Description: 259-62 p. digitalISSN:- 0014-5793
- Amino Acid Sequence
- Cells, Cultured
- Cyclic AMP -- physiology
- Electron Transport Complex I
- Enzyme Activation
- Fatal Outcome
- Fibroblasts -- cytology
- Humans
- Infant
- Leigh Disease -- enzymology
- Male
- Molecular Sequence Data
- Mutation
- NADH, NADPH Oxidoreductases -- deficiency
- Phosphorylation
- Protein Subunits
- Sequence Homology, Amino Acid
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Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
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