Molecular basis of dihydropteridine reductase deficiency.
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Smooker PM, Cotton RG
Molecular basis of dihydropteridine reductase deficiency.
Hum Mutat. 1995;5(4):279-84.
- PubMed ID
- 7627180 [ View in PubMed]
- Abstract
The spectrum of mutations causing dihydropteridine reductase is reviewed. A total of 12 point mutations have been described that map in the DHPR cDNA, resulting in amino acid substitutions, insertions and premature terminations. A further two mutations are described which result in aberrant splicing of DHPR transcripts. The application of the mutation identification to diagnostics and clinical treatment is discussed.