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Article

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

British journal of haematology - 1 Jul 2004

Kanno Hitoshi, Takizawa Takenori, Miwa Shiro, Fujii Hisaichi

Abstract excerpt

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...

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PMID: 15238149
DOI: 10.1111/j.1365-2141.2004.05029.x

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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