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Variable phenotypic expression of mutations in genes of the immune system.

Publication ,  Journal Article
Buckley, RH
Published in: J Clin Invest
November 2005

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 (see the related article beginning on page 3291).

Duke Scholars

Published In

J Clin Invest

DOI

ISSN

0021-9738

Publication Date

November 2005

Volume

115

Issue

11

Start / End Page

2974 / 2976

Location

United States

Related Subject Headings

  • Phenotype
  • Mutation
  • Immunology
  • Immune System Diseases
  • Immune System
  • Genetic Variation
  • 42 Health sciences
  • 32 Biomedical and clinical sciences
  • 31 Biological sciences
  • 11 Medical and Health Sciences
 

Citation

APA
Chicago
ICMJE
MLA
NLM
Buckley, R. H. (2005). Variable phenotypic expression of mutations in genes of the immune system. J Clin Invest, 115(11), 2974–2976. https://doi.org/10.1172/JCI26956
Buckley, Rebecca H. “Variable phenotypic expression of mutations in genes of the immune system.J Clin Invest 115, no. 11 (November 2005): 2974–76. https://doi.org/10.1172/JCI26956.
Buckley RH. Variable phenotypic expression of mutations in genes of the immune system. J Clin Invest. 2005 Nov;115(11):2974–6.
Buckley, Rebecca H. “Variable phenotypic expression of mutations in genes of the immune system.J Clin Invest, vol. 115, no. 11, Nov. 2005, pp. 2974–76. Pubmed, doi:10.1172/JCI26956.
Buckley RH. Variable phenotypic expression of mutations in genes of the immune system. J Clin Invest. 2005 Nov;115(11):2974–2976.

Published In

J Clin Invest

DOI

ISSN

0021-9738

Publication Date

November 2005

Volume

115

Issue

11

Start / End Page

2974 / 2976

Location

United States

Related Subject Headings

  • Phenotype
  • Mutation
  • Immunology
  • Immune System Diseases
  • Immune System
  • Genetic Variation
  • 42 Health sciences
  • 32 Biomedical and clinical sciences
  • 31 Biological sciences
  • 11 Medical and Health Sciences