Purine nucleoside phosphorylase deficiency. Measurement of variant protein in four families with enzyme-deficient members by an enzyme-linked immunosorbent assay.

By a sensitive enzyme-linked immunosorbent assay, inactive variant nucleoside phosphorylase (NP) protein could be quantitated in red cells and cultured skin fibroblasts from the probands and parents in four families with enzyme-deficient members. Three different mutant alleles could be identified th...

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Bibliografiska uppgifter
Huvudupphovsmän: Osborne, W R, Scott, C R
Materialtyp: Artigo
Språk:Inglês
Publicerad: 1980
Ämnen:
Research Article
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC1686162/
https://ncbi.nlm.nih.gov/pubmed/6778206
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