731 Purine Nucleoside Phosphorylase (Pnp) Deficiency With Cellular Immune Deficiency

Rich, Kenneth; Arnold, William N.; Fox, I. H.; Palella, Thomas D.; Pachman, Lauren M

doi:10.1203/00006450-197804001-00736

Cited by 3 publications

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“…A nonfunctional PNP molecule in one patient seems to have an internal insertion of several amino acid residues (23,24). The availability of the wild type genomic clones will permit comparative studies of the genetic defect in this PNPdeficient patient and in others (25)(26)(27)(28)(29). In addition, the amino acid sequence of PNP derived from the cDNA sequence will aid those laboratories studying the crystallographic structure of the protein (30) and allow comparative studies of the functional domains predicted from the amino acid sequences of other nucleoside and nucleotide metabolizing enzymes or binding proteins (31).…”

Section: Discussionmentioning

confidence: 99%

Human purine nucleoside phosphorylase cDNA sequence and genomic clone characterization

1984

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The isolation of a cDNA clone containing the complete coding region for human purine nucleoside phosphorylase (PNP) has been described previously. In this report we present the nucleotide sequence of this cDNA clone and compare the derived amino acid sequence, encoding a protein of 32 kilodaltons, with the published amino acid composition. Using a fragment of the cDNA clone as a probe, human PNP genomic clones from a bacteriophage lambda library have been isolated and the structural organization of the wild type PNP gene determined.

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Section: Discussionmentioning

confidence: 99%