Article
Mutations in purine nucleoside phosphorylase deficiency.
Human mutation - 1 Jan 1997
Markert M L, Finkel B D, McLaughlin T M, Watson T J, Collard H R, McMahon C P, Andrews L G, Barrett M J, Ward F E
Abstract excerpt
Purine nucleoside phosphorylase deficiency is an inherited disease of purine metabolism characterized clinically as combined immunodeficiency. The molecular defects have been published for 4 different alleles in 3 patients. We report four new mutations including two amino acid substitutions, A174P and G190V, a single codon deletion, delta I129, and a point mutation in intron 3 which leads to aberrant splicing and...
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