A severe autosomal-dominant periodic inflammatory disorder with renal AA amyloidosis and colchicine resistance associated to the MEFV H478Y variant in a Spanish kindred: An unusual familial Mediterranean fever phenotype or another MEFV-associated periodic
Author:
Funder
MARATÓ TV3
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Reference28 articles.
1. Association of mutations in the NALP3/CIAS1/PYPAF1 gene with a broad phenotype including recurrent fever, cold sensitivity, sensorineural deafness, and AA amyloidosis;Aganna;Arthritis Rheum,2002
2. Case records of the Massachusetts General Hospital. Weekly clinicopathological exercises. Case 25-1999. A 16-year-old boy with recurrent abdominal pain;Anonymous;N Engl J Med,1999
3. Colchicine: 1998 update;Ben-Chetrit;Semin Arthritis Rheum,1998
4. Non-founder mutations in the MEFV gene establish this gene as the cause of familial Mediterranean fever (FMF);Bernot;Hum Mol Genet,1998
5. Pyrin/marenostrin mutations in familial Mediterranean fever;Booth;QJM,1998
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