title: A new autosomal recessive, heterozygous pair of mutations of CYBA in a patient with chronic granulomatous disease.
authors.forename: Yu-Hao
authors.initials: YH
authors.lastname: Chang
authors.forename: Hsin-Hui
authors.initials: HH
authors.lastname: Yu
authors.forename: Yu-Lung
authors.initials: YL
authors.lastname: Lau
authors.forename: Koon-Wing
authors.initials: KW
authors.lastname: Chan
authors.forename: Bor-Luen
authors.initials: BL
authors.lastname: Chiang
mesh_terms: D002648:Child; D025063:Chromosome Disorders; D002885:Chromosomes, Human, Pair 16; D004252:DNA Mutational Analysis; D005260:Female; D005808:Genes, Recessive; D006105:Granulomatous Disease, Chronic / Q000175:diagnosis* / Q000235:genetics* / Q000276:immunology / Q000503:physiopathology; D006579:Heterozygote; D006801:Humans; D009154:Mutation / Q000235:genetics; D019255:NADPH Oxidases / Q000235:genetics*; D010375:Pedigree; D015203:Reproducibility of Results; D012235:Rhodamines; D012680:Sensitivity and Specificity
chemical_list: D012235:Rhodamines; C058319:dihydrorhodamine 123; D019255:NADPH Oxidases; C086986:CYBA protein, human