Combined mutation and rearrangement screening by quantitative PCR high-resolution melting: Is it relevant for hereditary recurrent fever genes?

PLoS ONE

Volumn 5, Issue 11, 2010, Pages

  Pallares Ruiz, Nathalie ^a   Philibert, Laurent ^a   Dumont, Bruno ^a   Fabre, Aurélie ^a   Cuisset, Laurence ^b   Cointin, Elodie ^a   Rittore, Cécile ^a   Soler, Stéphan ^a   Touitou, Isabelle ^a,c  

^a HÔPITAL ARNAUD DE VILLENEUVE   (France)

^b ASSISTANCE PUBLIQUE HÔPITAUX DE PARIS   (France)

^c UNIV MONTPELLIER   (France)

Author keywords

[No Author keywords available]

Indexed keywords

CYTOKINE RECEPTOR; MEVALONATE KINASE; NUCLEOTIDE BINDING OLIGOMERIZATION DOMAIN LIKE RECEPTOR; TUMOR NECROSIS FACTOR RECEPTOR SUPERFAMILY 1A; UNCLASSIFIED DRUG; CARRIER PROTEIN; NLRP3 PROTEIN, HUMAN; PHOSPHOTRANSFERASE; TNFRSF1A PROTEIN, HUMAN; TUMOR NECROSIS FACTOR RECEPTOR 1;

ARTICLE; CONTROLLED STUDY; DIAGNOSTIC VALUE; GENE DELETION; GENE DOSAGE; GENE DUPLICATION; GENE IDENTIFICATION; GENE MUTATION; GENE REARRANGEMENT; HEREDITARY NONPOLYPOSIS COLORECTAL CANCER; HEREDITARY PERIODIC FEVER; HIGH RESOLUTION MELTING ANALYSIS; HUMAN; MAJOR CLINICAL STUDY; NUCLEIC ACID ANALYSIS; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; QUALITATIVE ANALYSIS; QUANTITATIVE ANALYSIS; FEMALE; GENETIC PREDISPOSITION; GENETIC SCREENING; GENETICS; GENOTYPE; MALE; METHODOLOGY; MUTATION; REPRODUCIBILITY; SENSITIVITY AND SPECIFICITY;

CARRIER PROTEINS; FEMALE; GENE REARRANGEMENT; GENETIC PREDISPOSITION TO DISEASE; GENETIC TESTING; GENOTYPE; HEREDITARY AUTOINFLAMMATORY DISEASES; HUMANS; MALE; MUTATION; PHOSPHOTRANSFERASES (ALCOHOL GROUP ACCEPTOR); POLYMERASE CHAIN REACTION; RECEPTORS, TUMOR NECROSIS FACTOR, TYPE I; REPRODUCIBILITY OF RESULTS; SENSITIVITY AND SPECIFICITY;

EID: 78649506920     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0014096     Document Type: Article

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