Molecular characterization of a large cohort of patients with Chronic Granulomatous Disease and identification of novel CYBB mutations: An Italian multicenter study

Molecular Immunology

Volumn 46, Issue 10, 2009, Pages 1935-1941

  Di Matteo, Gigliola ^a   Giordani, Lucia ^b   Finocchi, Andrea ^a,c   Ventura, Annamaria ^b   Chiriaco, Maria ^a   Blancato, Jan ^d   Sinibaldi, Cecilia ^a   Plebani, Alessandro ^e   Soresina, Annarosa ^e   Pignata, Claudio ^f   Dellepiane, Rosa Maria ^g   Trizzino, Antonino ^h   Cossu, Fausto ⁱ   Rondelli, Roberto ^j   Rossi, Paolo ^a,c   De Mattia, Domenico ^b   Martire, Baldassarre ^b  

^a UNIVERSITY OF ROME TOR VERGATA   (Italy)

^b UNIVERSITY OF BARI   (Italy)

^c BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

^d GEORGETOWN UNIVERSITY SCHOOL OF MEDICINE   (United States)

^e UNIVERSITY OF BRESCIA   (Italy)

^f UNIVERSITY OF NAPLES FEDERICO II   (Italy)

^g UNIVERSITY OF MILAN   (Italy)

^h G Di Cristina Children's Hospital   (Italy)

ⁱ Osp Regionale per le Microcitemie   (Italy)

^j UNIVERSITY OF BOLOGNA   (Italy)

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Author keywords

Chronic Granulomatous Disease; CYBB; Genotype phenotype correlation; Mutation analysis; NADPH oxidase

Indexed keywords

CONTIG; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE PHOSPHATE OXIDASE; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE PHOSPHATE OXIDASE 2;

ADULT; ARTICLE; CHRONIC GRANULOMATOUS DISEASE; CLINICAL ARTICLE; CLINICAL ASSESSMENT; CLINICAL TRIAL; COHORT ANALYSIS; CONTROLLED STUDY; CORRELATION ANALYSIS; CYBB GENE; DENATURING HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; DISEASE SEVERITY; ENZYME ACTIVITY; EXON; FLUORESCENCE IN SITU HYBRIDIZATION; GENE; GENE DELETION; GENE DUPLICATION; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC CODE; GENOTYPE PHENOTYPE CORRELATION; HETEROZYGOTE; HOMOZYGOSITY; HUMAN; HUMAN CELL; ITALY; MALE; MOLECULAR GENETICS; MULTICENTER STUDY; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROTEIN ANALYSIS; RARE DISEASE; X CHROMOSOME LINKED DISORDER;

ADOLESCENT; ADULT; CELL LINE; CHILD; CHILD, PRESCHOOL; COHORT STUDIES; EUROPEAN CONTINENTAL ANCESTRY GROUP; FEMALE; GENOTYPE; GRANULOMATOUS DISEASE, CHRONIC; HUMANS; INCIDENCE; INFANT; INFANT, NEWBORN; ITALY; MALE; MEMBRANE GLYCOPROTEINS; MIDDLE AGED; MUTATION; NADPH OXIDASE;

EID: 65549083114     PISSN: 01615890     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.molimm.2009.03.016     Document Type: Article

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