Molecular basis of dihydropteridine reductase defi...[Hum Mutat. 1995]

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

Molecular basis of dihydropteridine reductase deficiency.

Smooker PM, Cotton RG.

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

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 [PubMed - indexed for MEDLINE]

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Molecular basis of dihydropteridine reductase deficiency.

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