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

Molecular basis of dihydropteridine reductase deficiency.

Source

Olive 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; [PubMed - indexed for MEDLINE]

Publication Types, MeSH Terms, Substances

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Review

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Dihydropteridine Reductase

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Cited by 1 PubMed Central article

Hyperphenylalaninemia with high levels of 7-biopterin is associated with mutations in the PCBD gene encoding the bifunctional protein pterin-4a-carbinolamine dehydratase and transcriptional coactivator (DCoH). [Am J Hum Genet. 1998]
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Hum Mutat. 1995 ;5(4):279-84.

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