Molecular basis of dihydropteridine reductase deficiency

Smooker, P.M.; Cotton, R.G.

Human Mutation 5(4): 279-284

1995


ISSN/ISBN: 1059-7794
PMID: 7627180
DOI: 10.1002/humu.1380050402
Accession: 009040039

Download citation:  
Text
  |  
BibTeX
  |  
RIS

Article/Abstract emailed within 0-6 h
Payments are secure & encrypted
Powered by Stripe
Powered by PayPal

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.

Molecular basis of dihydropteridine reductase deficiency