Molecular basis of Japanese variants of pyrimidine 5'-nucleotidase deficiency.

@article{Kanno2004MolecularBO,
  title={Molecular basis of Japanese variants of pyrimidine 5'-nucleotidase deficiency.},
  author={Hitoshi Kanno and Takenori Takizawa and Shiro Miwa and Hisaichi Fujii},
  journal={British journal of haematology},
  year={2004},
  volume={126 2},
  pages={265-71}
}
The type-I isoform of pyrimidine 5'-nucleotidase (P5N-I) has an important role in the catabolism of pyrimidine mononucleotides during erythroid maturation. Two alternatively spliced forms of P5N-I mRNA have been identified, and we found another alternatively spliced form in reticulocytes, which included an additional 87-bp sequence. The sequence is located 6.2-kb downstream of the exon 2 and 2.7-kb upstream of the exon 3 sequence; consequently, the P5N-I gene encodes 11 exons, which span… CONTINUE READING

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