Mutations in purine nucleoside phosphorylase deficiency.

doi:10.1002/(SICI)1098-1004(1997)9:2<118::AID-HUMU3>3.0.CO;2-5

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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, A174...

Topics

Alleles
Exons
Humans
Introns
Metabolism, Inborn Errors
Mutation
Polymerase Chain Reaction
Purine-Nucleoside Phosphorylase

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