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Properdin deficiency: molecular basis and disease association

✍ Scribed by C.A.P. Fijen; R. van den Bogaard; M. Schipper; M. Mannens; M. Schlesinger; Fredrikson G. Nordin; J. Dankert; M.R. Daha; A.G. Sjöholm; L. Truedsson; E.J. Kuijper


Book ID
117326627
Publisher
Elsevier Science
Year
1999
Tongue
English
Weight
132 KB
Volume
36
Category
Article
ISSN
0161-5890

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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