Mutations in antiquitin in individuals with pyridoxine-dependent seizures. [electronic resource]
Producer: 20060517Description: 307-9 p. digitalISSN:- 1078-8956
- Aldehyde Dehydrogenase -- genetics
- Animals
- Bacterial Proteins -- metabolism
- CHO Cells
- Child
- Child, Preschool
- Cricetinae
- Cricetulus
- Exons -- genetics
- Heterozygote
- Homozygote
- Humans
- Mutation -- genetics
- Oxidoreductases Acting on CH-NH Group Donors -- metabolism
- Pipecolic Acids -- metabolism
- Proline -- metabolism
- Pyridoxal Phosphate -- metabolism
- Pyridoxine -- metabolism
- Seizures -- genetics
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Publication Type: Journal Article; Research Support, Non-U.S. Gov't
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