A novel splice-site mutation in the common gamma chain (?c) geneIL2RG results in X-linked severe combined immunodeficiency with an atypical NK+ phenotype-Reference-Cited by-同舟云学术

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A novel splice-site mutation in the common gamma chain (?c) geneIL2RG results in X-linked severe combined immunodeficiency with an atypical NK+ phenotype

Published:2004 Issue:5 Volume:23 Page:522-523
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Hum. Mutat.

Author:

L. Ginn Samantha,Smyth Christine,Wong Melanie,Bennetts Bruce,B. Rowe Peter,E. Alexander Ian

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Cited by 22 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Clean up by aisle 2: roles for IL-2 receptors in host defense and tolerance;Current Opinion in Immunology;2021-10

2. Two sides of the same medal: Noncoding mutations reveal new pathological mechanisms and insights into the regulation of gene expression;WIREs RNA;2020-07-06

3. The IL-2RG R328X nonsense mutation allows partial STAT-5 phosphorylation and defines a critical region involved in the leaky-SCID phenotype;Clinical and Experimental Immunology;2020-01-19

4. Severe combined immune deficiency;Stiehm's Immune Deficiencies;2020

5. A synonymous splice site mutation in IL2RG gene causes late-onset combined immunodeficiency;International Journal of Hematology;2019-03-08

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