A series of mutations in the dihydropteridine reductase gene resulting in either abnormal RNA splicing or DHPR protein defects. Mutations in brief no. 244. Online.

@article{Smooker1999ASO,
  title={A series of mutations in the dihydropteridine reductase gene resulting in either abnormal RNA splicing or DHPR protein defects. Mutations in brief no. 244. Online.},
  author={Peter M Smooker and Tamara J. Gough and Richard G. H. Cotton and Carla Alliaudi and Luisa de Sanctis and Irma Dianzani},
  journal={Human mutation},
  year={1999},
  volume={13 6},
  pages={503-4}
}
Five novel mutations are described which result in the rare hyperphenylalaninemia DHPR-deficiency. Three of these are located at different intron/exon boundaries within the DHPR gene, and disrupt the maturation of the DHPR transcript such that little full-length mRNA can be detected by RT-PCR. Each mutation alters a conserved nucleotide within the splice site consensus sequence, and results in the skipping of an exon and, in one case, the activation of an inappropriate splicing signal. Two… CONTINUE READING