Mills, Philippa B
Mutations in antiquitin in individuals with pyridoxine-dependent seizures. [electronic resource]
- Nature medicine Mar 2006
- 307-9 p. digital
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
1078-8956
10.1038/nm1366 doi
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