Purine Nucleoside Phosphorylase Deficiency: EVIDENCE FOR MOLECULAR HETEROGENEITY IN TWO FAMILIES WITH ENZYME-DEFICIENT MEMBERS

Purine-nucleoside phosphorylase (NP) deficiency is associated with severely defective thymus-derived (T)-cell and normally functioning bone marrow-derived (B)-cell immunity. In this study, two unrelated families with a total of three NP deficient members were investigated. High pressure liquid chrom...

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Bibliographic Details
Main Authors: Osborne, William R. A., Chen, Shi-Han, Giblett, Eloise R., Biggar, W. Douglas, Ammann, Arthur A., Scott, C. Ronald
Format: Artigo
Language:Inglês
Published: 1977
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Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC372419/
https://ncbi.nlm.nih.gov/pubmed/408378
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