Association of mutations in the NALP3/CIAS1/PYPAF1 gene with a broad phenotype including recurrent fever, cold sensitivity, sensorineural deafness, and AA amyloidosis.
Aganna E., Martinon F., Hawkins P.N., Ross J.B., Swan D.C., Booth D.R., Lachmann H.J., Bybee A., Gaudet R., Woo P. et al., 2002. Arthritis and Rheumatism, 46 (9) pp. 2445-2452.
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