Identification and in vitro expression of mutations causing dihydropteridine reductase deficiency.

Abstract

Six mutations resulting in the recessive inherited disorder dihydropteridine reductase deficiency are reported, five of which are previously unknown. Two are nonsense mutations, resulting in premature termination of the protein, with the remaining four being missense mutations. The mutations found lie in the middle to 3' end of the dihydropteridine… (More)

Topics

Cite this paper

@article{Smooker1993IdentificationAI, title={Identification and in vitro expression of mutations causing dihydropteridine reductase deficiency.}, author={Peter M Smooker and David Howells and Richard G. H. Cotton}, journal={Biochemistry}, year={1993}, volume={32 25}, pages={6443-9} }