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
β¦ LIBER β¦
Neonatal screening for dihydropteridine reductase deficiency
β Scribed by A. Sahota; J. A. Blair; P. A. Barford; R. J. Leeming; A. Green; R. J. Pollitt
- Publisher
- Springer
- Year
- 1985
- Tongue
- English
- Weight
- 189 KB
- Volume
- 8
- Category
- Article
- ISSN
- 0141-8955
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