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- W2316067024 abstract "The serendipitous discovery that some children with an autosomal recessive form of severe combined immunodeficiency were also deficient in the enzyme adenosine deaminase (Giblett et al. 1972) led to the discovery of the deficiency of the related enzyme, purine nucleoside phosphorylase (PNP), among some children with autosomal recessively inherited T-cell deficiency, or Nezeloff syndrome (Giblett et al. 1975). In spite of an extensive search for more than a decade, there have been no other enzyme deficiencies discovered as causes of immunodeficiencies." @default.
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- W2316067024 date "1986-01-01" @default.
- W2316067024 modified "2023-09-25" @default.
- W2316067024 title "Molecular Basis of a Human Purine Nucleoside Phosphorylase Deficiency" @default.
- W2316067024 doi "https://doi.org/10.1101/sqb.1986.051.01.123" @default.
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