Molecular characterization of 82 patients with pyruvate dehydrogenase complex deficiency. Structural implications of novel amino acid substitutions in E1 protein. [electronic resource]
Producer: 20120315Description: 507-16 p. digitalISSN:- 1096-7206
- Adolescent
- Amino Acid Substitution
- Base Sequence
- Catalytic Domain
- Cells, Cultured
- Child
- Child, Preschool
- Female
- Fibroblasts -- enzymology
- Gene Dosage
- Humans
- Hydrogen Bonding
- INDEL Mutation
- Infant
- Infant, Newborn
- Male
- Molecular Sequence Data
- Pyruvate Dehydrogenase (Lipoamide) -- genetics
- Pyruvate Dehydrogenase Complex -- chemistry
- Pyruvate Dehydrogenase Complex Deficiency Disease -- genetics
- Sequence Analysis, DNA
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Publication Type: Journal Article
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