Condition: Purine-nucleoside phosphorylase deficiency
rs1026474882 in
PNP gene and
Purine-nucleoside phosphorylase deficiency
PMID 9067751 1997 Mutations in purine nucleoside phosphorylase deficiency.
PMID 24767876 2014 Diagnosis of immunodeficiency caused by a purine nucleoside phosphorylase defect by using tandem mass spectrometry on dried blood spots.
PMID 8931706 1996 Two novel missense and frameshift mutations in exons 5 and 6 of the purine nucleoside phosphorylase (PNP) gene in a severe combined immunodeficiency (SCID) patient.
PMID 3029074 1987 A human purine nucleoside phosphorylase deficiency caused by a single base change.
PMID 1384322 1992 Molecular analysis of mutations in a patient with purine nucleoside phosphorylase deficiency.
PMID 22132981 2011 Purine nucleoside phosphorylase deficiency: a mutation update.