Identification and functional consequences of a recurrent NLRP12 missense mutation in periodic fever syndromes

Arthritis and Rheumatism

Volumn 63, Issue 5, 2011, Pages 1459-1464

  Jéru, Isabelle ^a   Le Borgne, Gaëlle ^b   Cochet, Emmanuelle ^a   Hayrapetyan, Hasmik ^c   Duquesnoy, Philippe ^b   Grateau, Gilles ^d   Morali, Alain ^e   Sarkisian, Tamara ^c   Amselem, Serge ^a  

^a ARMAND TROUSSEAU HOSPITAL   (France)

^b Assistance publique Hôpitaux de Paris   (France)

^c Center of Medical Genetics and Primary Health Care   (Armenia)

^d HÔPITAL TENON   (France)

^e CHU NANCY BRABOIS   (France)

Author keywords

[No Author keywords available]

Indexed keywords

CASPASE; IMMUNOGLOBULIN ENHANCER BINDING PROTEIN; PROCASPASE 1; UNCLASSIFIED DRUG;

ARTICLE; AUTOINFLAMMATORY DISEASE; CASE REPORT; CPG ISLAND; GENE; HUMAN; IN VITRO STUDY; IN VIVO STUDY; MISSENSE MUTATION; NLRP12 GENE; PERIODIC FEVER SYNDROME; PRIORITY JOURNAL; SIGNAL TRANSDUCTION;

HEREDITARY AUTOINFLAMMATORY DISEASES; HUMANS; INTRACELLULAR SIGNALING PEPTIDES AND PROTEINS; MUTATION, MISSENSE; PHENOTYPE;

EID: 79955566751     PISSN: 00043591     EISSN: 15290131     Source Type: Journal    
DOI: 10.1002/art.30241     Document Type: Article

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