Molecular basis of the spectral expression of CIAS1 mutations associated with phagocytic cell-mediated autoinflammatory disorders CINCA/NOMID, MWS, and FCU

Blood

Volumn 103, Issue 7, 2004, Pages 2809-2815

  Neven, Bénédicte ^b   Callebaut, Isabelle ^b   Prieur, Anne Marie ^b   Feldmann, Jérôme ^b   Bodemer, Christine ^b   Lepore, Loredana ^b   Derfalvi, Beata ^b   Benjaponpitak, Suata ^b   Vesely, Richard ^b   Sauvain, Marie Jose ^b   Oertle, Stefan ^b   Allen, Roger ^b   Morgan, Gareth ^b   Borkhardt, Arndt ^b   Hill, Clare ^b   Gardner Medwin, Janet ^b   Fischer, Alain ^b   De Saint Basile, Geneviève ^a  

^a HÔPITAL NECKER ENFANTS MALADES   (France)

^b NONE

Author keywords

[No Author keywords available]

Indexed keywords

ADENOSINE TRIPHOSPHATASE; CRYOPYRIN; NUCLEOTIDE BINDING PROTEIN; PROTEIN; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; ARTICLE; AUTOIMMUNE DISEASE; C1AS1 GENE; CHEMICAL STRUCTURE; CHILD; CINCA SYNDROME; CLINICAL ARTICLE; COLD URTICARIA; CONTROLLED STUDY; CORRELATION ANALYSIS; DISEASE ASSOCIATION; EVIDENCE BASED MEDICINE; FAMILIAL DISEASE; GENE; GENE EXPRESSION; GENE MUTATION; GENOTYPE; HUMAN; HUMAN TISSUE; HYDROLYSIS; INFANT; INFLAMMATORY DISEASE; MOLECULAR BIOLOGY; MOLECULAR GENETICS; MOLECULAR INTERACTION; MOLECULAR MODEL; MUCKLE WELLS SYNDROME; NUCLEOTIDE SEQUENCE; OLIGOMERIZATION; PHAGOCYTE; PHENOTYPE; PREDICTION; PRIORITY JOURNAL; PROTEIN DOMAIN; PROTEIN FUNCTION; SYNDROME;

EID: 12144288979     PISSN: 00064971     EISSN: None     Source Type: Journal    
DOI: 10.1182/blood-2003-07-2531     Document Type: Article

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