Tumor necrosis factor receptor-associated periodic syndrome (TRAPS) in a Dutch family: Evidence for a TNFRSF1A mutation with reduced penetrance

European Journal of Human Genetics

Volumn 9, Issue 1, 2001, Pages 63-66

  Aganna, Ebun ^a   Aksentijevich, Ivona ^b   Hitman, Graham A ^a   Kastner, Daniel L ^b   Hoepelman, Andy I M ^c   Posma, Fokke D ^d   Zweers, Egbert J K ^c   McDermott, Michael F ^a  

^a QUEEN MARY UNIVERSITY OF LONDON   (United Kingdom)

^b NATIONAL INSTITUTE OF ARTHRITIS AND MUSCULOSKELETAL AND SKIN DISEASES   (United States)

^c UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^d TWENTEBORG HOSPITAL   (Netherlands)

Author keywords

Penetrance; Plasma TNFRSF1A levels; TNFRSF1A mutation; TRAPS

Indexed keywords

CYSTEINE; TUMOR NECROSIS FACTOR RECEPTOR;

ADULT; AGED; ARTICLE; AUTOSOMAL DISORDER; BLOOD LEVEL; CHROMOSOME; CLINICAL ARTICLE; CONTROLLED STUDY; FAMILY; FATHER; FEMALE; FEVER; GENE MUTATION; GENETIC SUSCEPTIBILITY; HETEROZYGOTE; HUMAN; MALE; NETHERLANDS; PENETRANCE; PHENOTYPE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RECURRENT DISEASE; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; TUMOR NECROSIS FACTOR RECEPTOR ASSOCIATED PERIODIC SYNDROME;

EID: 0035144572     PISSN: 10184813     EISSN: None     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5200573     Document Type: Article

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