Mutation of a new gene encoding a putative pyrin-like protein causes familial cold autoinflammatory syndrome and Muckle-Wells syndrome

Nature Genetics

Volumn 29, Issue 3, 2001, Pages 301-305

  Hoffman, Hal M ^a,b   Mueller, James L ^a,b   Broide, David H ^a,b   Wanderer, Alan A ^c   Kolodner, Richard D ^a,b  

^a UNIVERSITY OF CALIFORNIA   (United States)

^b UNIVERSITY OF CALIFORNIA SAN DIEGO   (United States)

^c UNIVERSITY OF COLORADO   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

DNA; GENE PRODUCT; LEUCINE; NUCLEOTIDE; PROTEIN CIAS1; PYRIN LIKE PROTEIN; UNCLASSIFIED DRUG;

APOPTOSIS; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CHROMOSOME 1Q; CLINICAL FEATURE; COLD EXPOSURE; COLD URTICARIA; CONTROLLED STUDY; DNA DETERMINATION; EXON; FAMILIAL COLD AUTOINFLAMMATORY SYNDROME; FEVER; GENE EXPRESSION; GENE FREQUENCY; GENE MAPPING; GENE MUTATION; GENE SEQUENCE; GENETIC CODE; GENETIC SCREENING; HUMAN; INFLAMMATION; LEUKOCYTE; MUCKLE WELLS SYNDROME; NUCLEOTIDE SEQUENCE; PERCEPTION DEAFNESS; PHENOTYPE; PRIORITY JOURNAL; PROTEIN DOMAIN; PROTEIN MOTIF;

AMINO ACID MOTIFS; AMINO ACID SEQUENCE; AUTOIMMUNE DISEASES; BASE SEQUENCE; BLOOD PROTEINS; CARRIER PROTEINS; CHROMOSOME MAPPING; COLD; CYTOSKELETAL PROTEINS; DNA MUTATIONAL ANALYSIS; EXONS; FAMILIAL MEDITERRANEAN FEVER; FEMALE; GENE EXPRESSION PROFILING; HEARING LOSS, SENSORINEURAL; HUMANS; INFLAMMATION; INTRONS; MALE; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; PEDIGREE; PROTEIN STRUCTURE, TERTIARY; PROTEINS; RNA, MESSENGER; SEQUENCE HOMOLOGY, NUCLEIC ACID;

EID: 0035179970     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/ng756     Document Type: Article

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