A new CARD15 mutation in Blau syndrome

European Journal of Human Genetics

Volumn 13, Issue 6, 2005, Pages 742-747

  van Duist, Marjan M ^a   Albrecht, Mario ^b   Podswiadek, Marta ^c   Giachino, Daniela ^a   Lengauer, Thomas ^b   Punzi, Leonardo ^c   De Marchi, Mario ^a  

^a UNIVERSITY OF TURIN   (Italy)

^b MAX PLANCK INSTITUTE FOR INFORMATICS   (Germany)

^c UNIVERSITY OF PADOVA   (Italy)

Author keywords

Activating mutation; Blau syndrome; CARD15; NACHT; NOD2

Indexed keywords

CASPASE RECRUITMENT DOMAIN PROTEIN 15; CELL RECEPTOR; GLUTAMIC ACID; IMMUNOGLOBULIN ENHANCER BINDING PROTEIN; LEUCINE;

ADULT; ARTHRITIS; ARTICLE; AUTOSOMAL DOMINANT DISORDER; BLAU SYNDROME; CARBOXY TERMINAL SEQUENCE; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; CROHN DISEASE; FEMALE; GENE LOCATION; GENETIC CONSERVATION; GENETIC SUSCEPTIBILITY; GENETIC VARIABILITY; GRANULOMATOUS INFLAMMATION; HUMAN; IMMUNITY; ITALY; MOLECULAR EVOLUTION; MUTATIONAL ANALYSIS; NUCLEIC ACID BASE SUBSTITUTION; NUCLEOTIDE BINDING SITE; NUCLEOTIDE SEQUENCE; PATHOGENESIS; PHENOTYPIC VARIATION; PRIORITY JOURNAL; RASH; SEQUENCE ALIGNMENT; UVEITIS;

AMINO ACID SEQUENCE; ARTHRITIS; CHILD; DNA MUTATIONAL ANALYSIS; EXANTHEMA; FEMALE; GRANULOMA; HUMANS; INTRACELLULAR SIGNALING PEPTIDES AND PROTEINS; MALE; MIDDLE AGED; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; NOD2 SIGNALING ADAPTOR PROTEIN; PEDIGREE; POINT MUTATION; POLYMERASE CHAIN REACTION; SYNDROME; UVEITIS;

EID: 20544459585     PISSN: 10184813     EISSN: None     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5201404     Document Type: Article

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