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Article

Detection of a novel nonsense mutation in the interleukin 2 receptor gamma gene causing X-linked severe combined immunodeficiency.

Annals of allergy, asthma & immunology : official publication of the American College of Allergy, Asthma, & Immunology - 1 Apr 2006

Cohen Lindsay, Hirschfeld Aaron F, Junker Anne K, Davis Jeff, Turvey Stuart E

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Share to Bone Marrow Transplantation
Share to Codon, Nonsense
Share to Genetic Diseases, X-Linked

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Infant

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Share to Receptors, Interleukin-2

Share to Sequence Analysis, DNA

Share to Severe Combined Immunodeficiency

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Identifiers

PMID: 16680939
DOI: 10.1016/S1081-1206(10)63563-6

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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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Detection of a novel nonsense mutation in the interleukin 2 receptor gamma gene causing X-linked severe combined immunodeficiency.PMID 16680939Read ↗

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Impairment of ligand binding and growth signaling of mutant IL-2 receptor gamma-chains in patients with X-linked severe combined immunodeficiency.Semantic proximity Read ↗

Screening for mutations causing X-linked severe combined immunodeficiency in the IL-2R gamma chain gene by single-strand conformation polymorphism analysis.Semantic proximity Read ↗

Two mutational hotspots in the interleukin-2 receptor gamma chain gene causing human X-linked severe combined immunodeficiency.Semantic proximity Read ↗

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