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 wh
Dihydropteridine reductase deficiency: Clinical, biochemical and therapeutic aspects
β Scribed by R. Cerone; S. Scalisi; M. Cotellessa; M. C. Schiaffino; U. Caruso; C. Romano
- Publisher
- Springer
- Year
- 1986
- Tongue
- English
- Weight
- 167 KB
- Volume
- 9
- Category
- Article
- ISSN
- 0141-8955
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