Human White Blood Cells and Hair Follicles Are Good Sources of mRNA for the Pterin Carbinolamine Dehydratase/Dimerization Cofactor of HNF1 for Mutation Detection

Pterin carbinolamine dehydratase/dimerization cofactor of HNF1 (PCD/DCoH) is a protein that has a dual function. It is a pterin 4α-carbinolamine dehydratase that is involved in the regeneration of the cofactor tetrahydrobiopterin during the phenylalanine hydroxylase- catalyzed hydroxylation of pheny...

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Veröffentlicht in:	Biochemical and biophysical research communications 1998-07, Vol.248 (2), p.432-435
Hauptverfasser:	Lei, Xiang-Dong, Kaufman, Seymour
Format:	Artikel
Sprache:	eng
Schlagworte:	Cloning, Molecular DNA-Binding Proteins Genetic Testing - methods Hair Follicle - enzymology Hepatocyte Nuclear Factor 1 Hepatocyte Nuclear Factor 1-alpha Hepatocyte Nuclear Factor 1-beta Humans Hydro-Lyases - genetics Leukocytes - enzymology Mutation - genetics Nuclear Proteins Phenylalanine - blood Phenylalanine Hydroxylase - genetics RNA, Messenger - analysis Sequence Analysis, DNA Sequence Homology, Amino Acid Transcription Factors - metabolism Transcriptional Activation - genetics
Online-Zugang:	Volltext
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