Associated Papers
Purine Nucleoside Phosphorylase Deficient Severe Combined Immunodeficiencies: A Case Report and Systematic Review (1975-2022).
Habib Dzulkarnain SM et al.
Journal of Clinical Immunology, 2023
Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations.
Fragoza R et al.
Nature Communications, 2019
31515488 (PubMed )
Supplement: 41467_2019_11959_MOESM8_ESM.xlsx › SD4_-_HGMD_Mutations
The First Purine Nucleoside Phosphorylase Deficiency Patient Resembling IgA Deficiency and a Review of the Literature.
Fekrvand S et al.
Immunological Investigations, 2019
Purine nucleoside phosphorylase deficiency: a mutation update.
Walker PL et al.
Nucleosides, Nucleotides & Nucleic Acids, 2011
Novel mutations and hot-spots in patients with purine nucleoside phosphorylase deficiency.
Grunebaum E et al.
Nucleosides, Nucleotides & Nucleic Acids, 2004
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