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Two adult siblings with atypical cryopyrin‐associated periodic syndrome due to a novel M299V mutation in NLRP3

Overview of attention for article published in Arthritis & Rheumatism, June 2010
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Title
Two adult siblings with atypical cryopyrin‐associated periodic syndrome due to a novel M299V mutation in NLRP3
Published in
Arthritis & Rheumatism, June 2010
DOI 10.1002/art.27489
Pubmed ID
Authors

Deepti Verma, Per Eriksson, Berolla Sahdo, Alexander Persson, Mikael Ejdebäck, Eva Särndahl, Peter Söderkvist

Abstract

The NALP3 inflammasome is a multiprotein complex that triggers caspase 1-mediated interleukin-1beta (IL-1beta) release. Mutations in the gene encoding NALP3 (NLRP3) underlie the cryopyrin-associated periodic syndrome (CAPS). The aim of this study was to report a novel NLRP3 mutation in 2 siblings of Swedish descent in whom symptoms first presented in adulthood.

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Mendeley readers

Mendeley readers

The data shown below were compiled from readership statistics for 28 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
United Kingdom 1 4%
Israel 1 4%
Unknown 26 93%

Demographic breakdown

Readers by professional status Count As %
Student > Ph. D. Student 6 21%
Other 5 18%
Researcher 5 18%
Professor > Associate Professor 4 14%
Student > Bachelor 3 11%
Other 3 11%
Unknown 2 7%
Readers by discipline Count As %
Medicine and Dentistry 9 32%
Agricultural and Biological Sciences 6 21%
Biochemistry, Genetics and Molecular Biology 2 7%
Pharmacology, Toxicology and Pharmaceutical Science 2 7%
Immunology and Microbiology 2 7%
Other 4 14%
Unknown 3 11%