An Israeli Arab patient with a de novo TNFRSF1A mutation causing tumor necrosis factor receptor-associated periodic syndrome

Arthritis and Rheumatism

Volumn 46, Issue 1, 2002, Pages 245-249

  Aganna, Ebun ^a   Zeharia, Avraham ^b   Hitman, Graham A ^a   Basel Vanagaite, Lina ^c   Allotey, Rebecca A ^a   Booth, David R ^d   Hawkins, Philip N ^d   Thacker, Catherine ^a   Syndercombe Court, Denise ^a   McDermott, Michael F ^a,e  

^a QUEEN MARY UNIVERSITY OF LONDON   (United Kingdom)

^b SCHNEIDER CHILDREN S MEDICAL CENTER OF ISRAEL   (Israel)

^c RABIN MEDICAL CENTER   (Israel)

^d ROYAL FREE HOSPITAL   (United Kingdom)

^e ROYAL LONDON HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ARAB; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CASE REPORT; CAUCASIAN; CONTROLLED STUDY; DIFFERENTIAL DIAGNOSIS; DISEASE MARKER; DNA SEQUENCE; ERYTHEMA CHRONICUM MIGRANS; EXON; FAMILIAL MEDITERRANEAN FEVER; FEVER; GENE LOCUS; GENE MUTATION; GENETIC SUSCEPTIBILITY; GENOTYPE; HUMAN; HUMAN CELL; MALE; MISSENSE MUTATION; MYALGIA; NUCLEIC ACID BASE SUBSTITUTION; PRIORITY JOURNAL; SEQUENCE ANALYSIS; TUMOR NECROSIS FACTOR RECEPTOR ASSOCIATED PERIODIC SYNDROME;

ADOLESCENT; ANTIGENS, CD; ARABS; FAMILIAL MEDITERRANEAN FEVER; FAMILY HEALTH; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HUMANS; ISRAEL; MALE; MUTATION, MISSENSE; PEDIGREE; RECEPTORS, TUMOR NECROSIS FACTOR; RECEPTORS, TUMOR NECROSIS FACTOR, TYPE I;

EID: 0036161835     PISSN: 00043591     EISSN: None     Source Type: Journal    
DOI: 10.1002/1529-0131(200201)46:1<245::AID-ART10038>3.0.CO;2-6     Document Type: Article

References (10)

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4. Ancient missense mutations in a new member of the RoRet gene family are likely to cause familial Mediterranean fever
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6. Tumor necrosis factor receptor-associated periodic syndrome (TRAPS) in a Dutch family: Evidence for a TNFRSF1A mutation with reduced penetrance
7. Familial periodic fever and amyloidosis due to a new mutation in the TNFRSF1A gene
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9. Higher than expected carrier rates for familial Mediterranean fever in various Jewish ethnic groups
10. Validation of short tandem repeat analysis for the investigation of cases of disputed paternity