Article
Human white blood cells and hair follicles are good sources of mRNA for the pterin carbinolamine dehydratase/dimerization cofactor of HNF1 for mutation detection.
Biochemical and biophysical research communications - 20 Jul 1998
Lei X D, Kaufman S
Abstract excerpt
Pterin carbinolamine dehydratase/dimerization cofactor of HNF1 (PCD/DCoH) is a protein that has a dual function. It is a pterin 4alpha-carbinolamine dehydratase that is involved in the regeneration of the cofactor tetrahydrobiopterin during the phenylalanine hydroxylase- catalyzed hydroxylation o...
Topics
- Cloning, Molecular
- DNA-Binding Proteins
- Genetic Testing
- Hair Follicle
- Hepatocyte Nuclear Factor 1
- Hepatocyte Nuclear Factor 1-alpha
- Hepatocyte Nuclear Factor 1-beta
- Humans
- Hydro-Lyases
- Leukocytes
- Mutation
- Nuclear Proteins
- Phenylalanine
- Phenylalanine Hydroxylase
- RNA, Messenger
- Sequence Analysis, DNA
- Sequence Homology, Amino Acid
- Transcription Factors