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
The First Purine Nucleoside Phosphorylase Deficiency Patient Resembling IgA Deficiency and a Review of the Literature.
Fekrvand S et al.
Immunological Investigations, 2019
MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing.
Mort M et al.
Genome Biology, 2014
24451234 (PubMed )
Supplement: gb-2014-15-1-r19-S1.pdf
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
Persistent developmental delay despite successful bone marrow transplantation for purine nucleoside phosphorylase deficiency.
Baguette C et al.
Journal of Pediatric Hematology/oncology, 2002
Mutations in purine nucleoside phosphorylase deficiency.
Markert ML et al.
Human Mutation, 1997
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