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Article

Structure-function effects in primary immunodeficiencies.

Scandinavian journal of immunology - 1 Sept 2000

Korpi M, Väliaho J, Vihinen M

Abstract excerpt

Several immunodeficiency-related genes have been identified and a large number of mutations in these genes. Currently, a genetic defect has been determined in more than 2000 patients. Only recently has it become possible to address structure-function effects of these mutations in the corresponding proteins. The consequences of mutations in structure are discussed for Btk in X-linked agammaglobulinemia (XLA), Jak3...

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Identifiers

PMID: 10972897
DOI: 10.1046/j.1365-3083.2000.00799.x

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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