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Citations to this article

Variable phenotypic expression of mutations in genes of the immune system
Rebecca H. Buckley
Rebecca H. Buckley
Published November 1, 2005
Citation Information: J Clin Invest. 2005;115(11):2974-2976. https://doi.org/10.1172/JCI26956.
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Commentary

Variable phenotypic expression of mutations in genes of the immune system

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Abstract

Discovery of mutated genes that cause various types of primary immunodeficiencies has significantly advanced our understanding of the pathogenesis of these diseases and of the functions of normal gene products. However, it is becoming abundantly clear that the phenotypic presentation of mutations in a given gene can be quite different, depending upon the location and type of mutation but also probably upon other genetic factors and environmental influences. In this issue of the JCI, de Villartay et al. describe a third phenotype for mutations in recombination activating gene 1 (RAG1), in addition to the already known phenotypes of SCID and Omenn syndrome.

Authors

Rebecca H. Buckley

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Total citations by year

Year: 2016 2015 2014 2011 2010 2007 Total
Citations: 1 2 3 1 1 1 9
Citation information
This citation data is accumulated from CrossRef, which receives citation information from participating publishers, including this journal. Not all publishers participate in CrossRef, so this information is not comprehensive. Additionally, data may not reflect the most current citations to this article, and the data may differ from citation information available from other sources (for example, Google Scholar, Web of Science, and Scopus).

Citations to this article in year 2010 (1)

Title and authors Publication Year
Genetics of SCID
F Cossu
Italian Journal of Pediatrics 2010

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