The tumor-necrosis-factor receptor-associated periodic syndrome: new mutations in TNFRSF1A, ancestral origins, genotype-phenotype studies, and evidence for further genetic heterogeneity of periodic fevers
Aksentijevich I, Galon J, Soares M, Mansfield E, Hull K, Oh HH, Goldbach-Mansky R, Dean J, Athreya B, Reginato AJ, Henrickson M, Pons-Estel B, O'Shea JJ, Kastner DL
Am J Hum Genet · 2001
Key Findings
- ●Identified new TNFRSF1A mutations and performed genotype-phenotype analysis
- ●Cysteine mutations: 93% penetrance, 24% amyloidosis risk
- ●Non-cysteine mutations: 82% penetrance, 2% amyloidosis risk
Referenced in (1 disease)
Validation history
Full log →No validation events recorded yet. Source will be checked on the next kipine-source-validator run.
ID: pmid-11443543DOI: 10.1086/321976PMID: 11443543