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Molecular basis of dihydropteridine reductase deficiency

✍ Scribed by Peter M. Smooker; Richard G. H. Cotton

Publisher
John Wiley and Sons
Year
1995
Tongue
English
Weight
498 KB
Volume
5
Category
Article
ISSN
1059-7794

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✦ Synopsis

Communicated by Savio L.C. Woo 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. o 1995 Wiley-Liss, Inc.

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