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Hum Mutat. 1995;5(4):279-84.

Molecular basis of dihydropteridine reductase deficiency.

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  • 1Olive Miller Protein Laboratory, Murdoch Institute for Research into Birth Defects, Parkville, Australia.

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.

PMID:
7627180
DOI:
10.1002/humu.1380050402
[PubMed - indexed for MEDLINE]
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