A novel mutation in NCF1 in an adult CGD patient with a liver abscess as first presentation

Journal of Human Genetics

Volumn 54, Issue 6, 2009, Pages 313-316

  Van De Vosse, Esther ^a   Van Wengen, Annelies ^a   Van Geelen, Jos A ^b   De Boer, Martin ^c   Roos, Dirk ^c   Van Dissel, Jaap T ^a  

^a LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^b Location Alkmaar   (Netherlands)

^c UNIVERSITY OF AMSTERDAM   (Netherlands)

Author keywords

CGD; Liver abscess; NADPH oxidase; NCF1; P47phox

Indexed keywords

PROTEIN P47; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE PHOSPHATE OXIDASE;

ADULT; ALLELE; ARTICLE; CASE REPORT; CHRONIC GRANULOMATOUS DISEASE; FEMALE; FEVER; GENE; GENE DELETION; GENE MUTATION; GENE SEQUENCE; HUMAN; LIVER ABSCESS; NCF1 GENE; PSEUDOGENE; STAPHYLOCOCCUS AUREUS; STAPHYLOCOCCUS INFECTION; STOP CODON; WESTERN BLOTTING;

ADULT; BLOTTING, WESTERN; DNA PRIMERS; FEMALE; GRANULOMATOUS DISEASE, CHRONIC; HUMANS; LIVER ABSCESS; MUTATION; NADPH OXIDASE; NEUTROPHILS; TOMOGRAPHY, X-RAY COMPUTED;

FUNGI; STAPHYLOCOCCUS AUREUS;

EID: 67650793512     PISSN: 14345161     EISSN: None     Source Type: Journal    
DOI: 10.1038/jhg.2009.24     Document Type: Article

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