Molecular characterization of a novel splice site mutation within the CYBB gene leading to x-linked chronic granulomatous disease

Pediatric Blood and Cancer

Volumn 44, Issue 4, 2005, Pages 420-422

  Barese, Cecilia N ^a,e   Copelli, Silvia B ^b   De Matteo, Elena ^a   Zandomeni, Rubén ^c   Salgueiro, Fabián ^a   Di Giovanni, Daniela ^a   Heyworth, Paul ^d   Rivas, Eva María ^a  

^a HOSPITAL DE NIÑOS RICARDO GUTIÉRREZ   (Argentina)

^b Universidad CAECE   (Argentina)

^c INSTITUTO NACIONAL DE TECNOLOGÍA AGROPECUARIA INTA   (Argentina)

^d MERCK RESEARCH LABORATORIES   (United States)

^e INDIANA UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

Cholangitis; Hepatic abscess; NADPH oxidase; Neutrophils; X linked chronic granulomatous disease

Indexed keywords

SUPEROXIDE;

ARTICLE; CASE REPORT; CHRONIC GRANULOMATOUS DISEASE; DISEASE SEVERITY; GENE MUTATION; GENETIC CODE; GENETIC TRANSFECTION; HUMAN; MALE; NEUTROPHIL; PHAGOCYTE; PHENOTYPE; PRIORITY JOURNAL; REDUCTION; RNA SPLICING; SCHOOL CHILD; X CHROMOSOME LINKED DISORDER;

CHILD; CHOLANGITIS; GRANULOMATOUS DISEASE, CHRONIC; HUMANS; LIVER ABSCESS; MALE; MEMBRANE GLYCOPROTEINS; MUTATION; NADPH OXIDASE; NEUTROPHILS; RNA SPLICE SITES;

EID: 14644436352     PISSN: 15455009     EISSN: None     Source Type: Journal    
DOI: 10.1002/pbc.20204     Document Type: Article

References (6)

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2. Rae J, Newburger PE, Dinauer MC, et al. X-linked chronic granulomatous disease: Mutations in the cybb gene encoding the gp91-phox component of respiratory-burst oxidase. Am J Hum Genet 1998;62:1320-1331.
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4. Heyworth PG, Curnutte JT, Rae J, et al. Hematologically important mutations: X-linked chronic granulomatous disease (second update). Blood Cells Mol Dis 2001;27:16-26.
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